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ICARE Featured Video October 2021

SMARCA4

Below you may watch a featured video from the October 2021 Genetics Case Conference, which focused on SMARCA4 with guest expert William Foulkes, MBBS, PhD from McGill University.

Permanent link to this article: https://inheritedcancer.net/video100721/

ICARE Featured Video September 2021

Rhabdomyosarcoma and Neuroblastoma

Below you may watch a featured video from the September 2021 Genetics Case Conference, which focused on rhabdomyosarcoma and neuroblastoma with guest expert Douglas Stewart, MD from the National Cancer Institute.

Permanent link to this article: https://inheritedcancer.net/video90921/

Other Cancer Genetics Webinar September 2021

Genetic Counseling in the Context of Paired Germline/Somatic Testing

Below you may watch an exciting presentation about germline and tumor testing for ovarian cancer by Leigha-Senter Jamieson, MS, CGC from The Ohio State University, in which she considers how the role of genetic counselors may expand to support patients in partnership with treating gynecologic oncologists.

Permanent link to this article: https://inheritedcancer.net/video90821/

ICARE Featured Video August 2021

Inherited Prostate Cancer

Below you may watch a featured video from the August 2021 Genetics Case Conference, which focused on inherited prostate cancer with guest expert Kerry Schaffer, MD from Vanderbilt University Medical Center in Nashville, TN.

Permanent link to this article: https://inheritedcancer.net/video81221/

ICARE Featured Video August 2021

Updates to National Comprehensive Cancer Network (NCCN) Guidelines

Below you may watch a featured video from the August 2021 ICARE Genetics Case Conferences outlining updates to National Comprehensive Cancer Network (NCCN) guidelines.

Permanent link to this article: https://inheritedcancer.net/video81221_2/

ICARE Featured Video June 2021

PALB2

Below you may watch a featured video from the June 2021 Genetics Case Conference, which focused on PALB2 with guest experts Marc Tischkowitz, MD, PhD from the University of Cambridge in Cambridge, England and Steven Narod, MD, FRCPC, FRSC from the Women’s College Research Institute in Toronto, Canada.

Permanent link to this article: https://inheritedcancer.net/video61021/

ICARE Social Media Post April 2021

Effect of Salpingo-Oophorectomy on Breast Cancer Risk in Women With BRCA1 or BRCA2 Pathogenic Variants

For more information, view the JAMA Oncology article available at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2776761

Permanent link to this article: https://inheritedcancer.net/post42821/

ICARE Social Media Post April 2021

Addressing Racial Disparities in Breast Cancer Clinical Trial Enrollment

For more information, read the recently published ASCO Daily News editorial led by ๐——๐—ฟ. ๐—ฆ๐—ผ๐—ป๐˜†๐—ฎ ๐—ฅ๐—ฒ๐—ถ๐—ฑ from Vanderbilt University Medical Center, which focused on racial disparities in breast cancer clinical trial enrollment: https://dailynews.ascopubs.org/do/10.1200/ADN.21.200499/full/

Permanent link to this article: https://inheritedcancer.net/post42321/

ICARE Social Media Post April 2021

Komen Disparities Resource

Check out Susan G. Komen’s “๐—ž๐—ป๐—ผ๐˜„ ๐—ฌ๐—ผ๐˜‚๐—ฟ ๐—›๐—ถ๐˜€๐˜๐—ผ๐—ฟ๐˜†, ๐—ž๐—ป๐—ผ๐˜„ ๐—ฌ๐—ผ๐˜‚๐—ฟ ๐—ฅ๐—ถ๐˜€๐—ธ” resource, which outlines disparities in breast cancer, how to understand your risk, and recommended screening and management practices. To learn more, please visit: ๐Ÿ‘‰ https://www.komen.org/about-komen/our-impact/breast-cancer/health-equities-initiative/know-your-history/ ๐Ÿ‘‰ https://blog.komen.org/news/black-history-month/

Permanent link to this article: https://inheritedcancer.net/post42021/

ICARE Social Media Post April 2021

Olaparib for Metastatic Breast Cancer

For more information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151

Permanent link to this article: https://inheritedcancer.net/post41321/

ICARE Social Media Post April 2021

Winter 2021 Ask the Expert

In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Rebecca Smith explains how a genetic change (or mutation) is classified as pathogenic or benign. Check out Dr. Smith’s full response in our Winter 2021 newsletter at: https://inheritedcancer.net/newsletters/

Permanent link to this article: https://inheritedcancer.net/post40921/

ICARE Featured Video April 2021

Multiple Primary Tumors

Below you may watch a featured video from the April 2021 Genetics Case Conference, which focused on multiple primary tumors with guest expert James Whitworth, MD, PhD from the University of Cambridge.

Permanent link to this article: https://inheritedcancer.net/video40921/

ICARE Social Media Post April 2021

Fruits and Vegetables Lower Mortality

For further information, view the article available at:https://www.ahajournals.org/doi/abs/10.1161/CIRCULATIONAHA.120.048996

Permanent link to this article: https://inheritedcancer.net/post40621/

ICARE Social Media Post April 2021

Family Communication of Genetic Test Results Among Women with Inherited Breast Cancer Genes

Check out a recent article led by the ICARE team, published in the Journal of Genetic Counseling, outlining family communication of genetic test results among female BRCA1/2, PALB2, CHEK2, and ATM carriers. Check out the full article at: https://onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1356

Permanent link to this article: https://inheritedcancer.net/post40221/

ICARE Social Media Post March 2021

STK11: Cancer Risks and Risk Management

Gene: STK11 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Women:Breast cancer risk: Elevated at 40-60% – Recommend annual mammogram and breast MRI starting at around age 30. Ovarian tumor risk (typically benign sex cord/Sertoli cell tumors): Elevated at 18-21% – Recommend annual pelvic exam starting at …

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Permanent link to this article: https://inheritedcancer.net/post33021/

ICARE Social Media Post March 2021

MUTYH: Cancer Risks and Risk Management

Gene: MUTYH Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Men & women with two mutations in MUTYH:Colon cancer risk: High risk – Recommend colonoscopy every 1-2 years beginning at age 25-30; colectomy considered based on polyp burden and age. Duodenal cancer risk: Elevated – Consider baseline …

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Permanent link to this article: https://inheritedcancer.net/post32321/

ICARE Social Media Post March 2021

Winter 2021 Community Spotlight

In every ICARE newsletter we feature a ๐—ฐ๐—ผ๐—บ๐—บ๐˜‚๐—ป๐—ถ๐˜๐˜† ๐˜€๐—ฝ๐—ผ๐˜๐—น๐—ถ๐—ด๐—ต๐˜ to share their experience with inherited cancer. In the latest edition, Dave Dubin, co-founder of AliveAndKickn, shares his experience with Lynch Syndrome. Check out his full story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post31921/

ICARE Social Media Post March 2021

APC: Cancer Risks and Risk Management

๐—š๐—ฒ๐—ป๐—ฒ: ๐—”๐—ฃ๐—– Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 ๐— ๐—ฒ๐—ป & ๐—ช๐—ผ๐—บ๐—ฒ๐—ป:๐˜ˆ๐˜—๐˜Š mutation leading to classic form of Familial Adenomatous Polyposis (FAP):Colorectal cancer risk: >99% if untreated – Treatment is based on polyp burden and includes proctocolectomy (with subsequent endoscopic screening of the ileal pouch) or …

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Permanent link to this article: https://inheritedcancer.net/post31621/

ICARE Social Media Post March 2021

Colorectal Cancer Risk Assessment Tool

In honor of ๐—–๐—ผ๐—น๐—ผ๐—ฟ๐—ฒ๐—ฐ๐˜๐—ฎ๐—น ๐—–๐—ฎ๐—ป๐—ฐ๐—ฒ๐—ฟ ๐—”๐˜„๐—ฎ๐—ฟ๐—ฒ๐—ป๐—ฒ๐˜€๐˜€ ๐— ๐—ผ๐—ป๐˜๐—ต, we wanted to highlight the National Cancer Institute’s Colorectal Cancer Risk Assessment Tool (CCRAT) designed for healthcare providers to use with select patients to estimate the risk of colorectal cancer. You may access the tool at https://ccrisktool.cancer.gov

Permanent link to this article: https://inheritedcancer.net/post31221/

ICARE Featured Video March 2021

Inherited Colorectal Cancer

Below you may watch a featured video from the March 2021 Genetics Case Conference, which focused on inherited colorectal cancer with guest expert Georgia Wiesner, MD from Vanderbilt University Medical Center.

Permanent link to this article: https://inheritedcancer.net/video31121/

ICARE Social Media Post March 2021

Three Articles: Breast Cancer Risks

For additional information about the: ใ€‹US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 ใ€‹International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 ใ€‹Accompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083

Permanent link to this article: https://inheritedcancer.net/post30921/

ICARE Social Media Post March 2021

Breastfeeding and the Risk of Epithelial Ovarian Cancer Among Women with A BRCA1 or BRCA2 Mutation

For further information, view the article available at: https://www.gynecologiconcology-online.net/action/showPdf?pii=S0090-8258%2820%2933947-0

Permanent link to this article: https://inheritedcancer.net/post30221/

ICARE Social Media Post February 2021

Olaparib and Invasive Disease-Free Survival in Patients with BRCA, High-Risk, Early Breast Cancer

For additional information visit: https://www.onclive.com/view/adjuvant-olaparib-showcases-idfs-improvement-in-brca-high-risk-early-breast-cancer

Permanent link to this article: https://inheritedcancer.net/post22321/

ICARE Featured Video February 2021

DICER1

Below you may watch a featured video from the February 2021 Genetics Case Conference, which focused on DICER1 with guest expert Douglas Stewart, MD from the National Cancer Institute.

Permanent link to this article: https://inheritedcancer.net/video21121/

ICARE Newsletter Winter 2021

Inherited Breast Cancer Genes: Two New Important Articles Just Released

Results of a United States (U.S.)-based study1 and an international study2 were released in January in the New England Journal of Medicine and provide a much clearer picture about the role of inherited breast cancer genes in women without a family history of cancer, and how common these genes may be in the general population. …

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Permanent link to this article: https://inheritedcancer.net/2nlw2021/

ICARE Newsletter Winter 2021

Updates to National Comprehensive Cancer Network (NCCN) Guidelines Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic

Released September 8th, 2020: Genetic testing criteria by cancer type: Breast Cancer: Broadened to include relatives with ALL grades of prostate cancer (not just high-grade) Having multiple breast cancer diagnoses no longer depends on whether the diagnoses were on two different breasts Prostate Cancer: Now includes cribriform histology and ANY risk group (not just high-grade …

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Permanent link to this article: https://inheritedcancer.net/1nlw2021/

ICARE Newsletter Winter 2021

Exploring Disparities Among Those with Inherited Cancers

It has never been more urgent to ensure that advances in genomic technologies do not further widen existing cancer health disparities. In the fall of 2020, the American Association for Cancer Research (AACR) put forth a report focused on cancer health disparities, in which they highlighted several issues.1 Notably, disparities in inherited cancer care were …

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Permanent link to this article: https://inheritedcancer.net/5nlw2021/

ICARE Newsletter Winter 2021

Study Suggests Low Yield of MRI Surveillance After Bilateral Mastectomy

A study of 159 women, including BRCA1/2 carriers, who had a bilateral mastectomy with reconstruction and underwent breast MRI screening, showed few women had detection of breast cancer through MRI after their bilateral mastectomy. These results support the recommendation that BRCA1/2 carriers with or without breast cancer who have a bilateral mastectomy with reconstruction do …

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Permanent link to this article: https://inheritedcancer.net/8nlw2021/

ICARE Newsletter Winter 2021

Community Spotlight

My genes donโ€™t define me. I am AliveAndKickn. Pretty bold statement. AliveAndKickn is more than just a name. Itโ€™s a way of life. I joke that Lynch Syndrome is the genetic predisposition to colon cancer, endometrial cancer, other cancersโ€ฆand soccer. But thatโ€™s just me. Besides half a dozen surgeries since 1997, I have and still play and coach the game I love. …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2021/

ICARE Newsletter Winter 2021

Learning You Have a Mutation in an Inherited Cancer Gene: Whatโ€™s Next?

The benefits achieved through genetic testing for inherited cancer only happen by acting upon the results. This can be through guiding cancer treatment, receiving appropriate cancer risk management strategies, and sharing results with at-risk family members so they too can benefit from this information. We recently reported on results of our study, made possible through …

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Permanent link to this article: https://inheritedcancer.net/6nlw2021/

ICARE Newsletter Winter 2021

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that โ€œโ€ฆ it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.โ€2 Another subsequent report in 2008 based …

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Permanent link to this article: https://inheritedcancer.net/4nlw2021/

ICARE Newsletter Winter 2021

Assessing How Pregnancy and Breastfeeding May Affect Cancer Risks in BRCA Carriers

Results of a recently published study suggested that pregnancy after breast cancer in BRCA carriers does not lead to a worse outcome in women or their fetuses.1 This information is reassuring for BRCA carriers who have had a prior diagnosis of breast cancer and are considering having children. In another study among female BRCA carriers …

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Permanent link to this article: https://inheritedcancer.net/3nlw2021/

ICARE Newsletter Winter 2021

Ask the Expert

In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Rebecca Smith, PhD, Laboratory Director at Genetics Associates, Inc. with over 20 years of experience in biomedical research and 7 years of experience in clinical laboratory diagnostics. If you have a question …

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Permanent link to this article: https://inheritedcancer.net/9nlw2021/

ICARE Newsletter Winter 2021

Inherited Cancer Treatment: Updates and Relevant Policies

Over the last several months, the American Society of Clinical Oncology published a number of guidelines related to the use of PARP inhibitors among those with BRCA-associated cancers, including guidelines focused on ovarian cancer,1 metastatic pancreatic cancer,2 and breast cancer.3 Additionally, costs of drugs also have great potential to influence policy, highlighting the importance of …

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Permanent link to this article: https://inheritedcancer.net/7nlw2021/

ICARE Social Media Post February 2021

Sharing Genetic Test Results with Family Members of BRCA, PALB2, CHEK2, and ATM Carriers

Our team recently published “Sharing Genetic Test Results with Family Members of ๐˜‰๐˜™๐˜Š๐˜ˆ, ๐˜—๐˜ˆ๐˜“๐˜‰2, ๐˜Š๐˜๐˜Œ๐˜’2, and ๐˜ˆ๐˜›๐˜” Carriers” in ๐˜—๐˜ข๐˜ต๐˜ช๐˜ฆ๐˜ฏ๐˜ต ๐˜Œ๐˜ฅ๐˜ถ๐˜ค๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ ๐˜ข๐˜ฏ๐˜ฅ ๐˜Š๐˜ฐ๐˜ถ๐˜ฏ๐˜ด๐˜ฆ๐˜ญ๐˜ช๐˜ฏ๐˜จ Special Issue on Genetics. View the article available at:https://www.sciencedirect.com/science/article/pii/S0738399120306832 Challenges and barriers to family sharing included concern for family members’ reactions, complexities of information, lack of closeness, perceived relevance, & emotional impact. …

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Permanent link to this article: https://inheritedcancer.net/post20821/

ICARE Social Media Post February 2021

Strategies to Enhance the Identification of Hereditary Breast Cancer Gene Carriers

Check out a recent review article led by the ICARE team, published in ๐˜Œ๐˜น๐˜ฑ๐˜ฆ๐˜ณ๐˜ต ๐˜™๐˜ฆ๐˜ท๐˜ช๐˜ฆ๐˜ธ ๐˜ฐ๐˜ง ๐˜”๐˜ฐ๐˜ญ๐˜ฆ๐˜ค๐˜ถ๐˜ญ๐˜ข๐˜ณ ๐˜‹๐˜ช๐˜ข๐˜จ๐˜ฏ๐˜ฐ๐˜ด๐˜ต๐˜ช๐˜ค๐˜ด, outlining strategies to improve the identification of inherited breast cancer gene carriers. Check out the full article at: https://www.tandfonline.com/doi/pdf/10.1080/14737159.2020.1816829?needAccess=true

Permanent link to this article: https://inheritedcancer.net/post20221/

ICARE Social Media Post January 2021

Male Breast Cancer Coalition (MBCC)

The Male Breast Cancer Coalition (MBCC) shares stories from male breast cancer survivors all over the world. To learn more and find resources for affected men and their families, please visit https://malebreastcancercoalition.org/. MBCC also developed printable and shareable cards in over 20 languages outlining the proper way to do self-breast exams for both men and …

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Permanent link to this article: https://inheritedcancer.net/post12621/

ICARE Social Media Post January 2021

COVID-19 Vaccine Myths

Although we don’t typically post on vaccines, given the public health importance of the COVID-19 vaccine and the questions we have received related to whether the vaccine could change one’s DNA, we wanted to provide some information and resources to address some of the most common myths about this vaccine. For more information, watch the …

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Permanent link to this article: https://inheritedcancer.net/post12221/

ICARE Social Media Post January 2021

Sharing Genetic Test Results with Family Members of BRCA, PALB2, CHEK2, and ATM

Check out a new article by the ICARE team, published in Patient Education and Counseling, evaluating the motivators and barriers to sharing personal genetic test results with family members. The article is ๐—ณ๐—ฟ๐—ฒ๐—ฒ to access and download ๐˜‚๐—ป๐˜๐—ถ๐—น ๐— ๐—ฎ๐—ฟ๐—ฐ๐—ต ๐Ÿฑ๐˜๐—ต at: https://www.sciencedirect.com/science/article/pii/S0738399120306832

Permanent link to this article: https://inheritedcancer.net/post11521/

ICARE Featured Video January 2021

Tumor Testing/Germline Significance

Below you may watch a featured video from the January 2021 Genetics Case Conference, which focused on tumor testing/germline significance with guest expert Ben Ho Park, MD, PhD from Vanderbilt University Medical Center.    

Permanent link to this article: https://inheritedcancer.net/video11421/

ICARE Social Media Post January 2021

Qualitative Methods for Refining a Web-Based Educational Tool for Patients Focused on Inherited Cancer Predisposition

Check out a study led by the ICARE team, published with @SpringerNature in the Journal of Cancer Education, outlining the evaluation and refinement strategies of an interactive web-based tool developed to provide education about inherited cancer risk. Check out a full-text view-only version of the paper at https://rdcu.be/cc8sR or read the abstract at https://pubmed.ncbi.nlm.nih.gov/33400205/ (PMID: …

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Permanent link to this article: https://inheritedcancer.net/post11221/

ICARE Social Media Post January 2021

Family Sharing Resources: GeneSHARE

With the tremendous advances in gene-based care among those at risk for inherited cancer, we are trying to develop and improve tools and strategies to make it easier for more people to benefit from genetic testing. We are excited to share with you a free online toolkit called ๐—š๐—ฒ๐—ป๐—ฒ๐—ฆ๐—›๐—”๐—ฅ๐—˜, which is aimed at helping patients …

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Permanent link to this article: https://inheritedcancer.net/post10821/

ICARE Publication January 2021

Qualitative Methods for Refining a Web-Based Educational Tool for Patients Focused on Inherited Cancer Predisposition

Abstract To address the increasing demand for inherited cancer genetic testing, we developed and evaluated a web-based educational tool to streamline genetic counseling (GC). Consented patients viewed the initial prototype containing core content (Version 1-Core) and provided feedback through three open-ended survey questions. Additional data were collected through individual interviews from a subgroup who viewed …

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Permanent link to this article: https://inheritedcancer.net/pub10521_2/

ICARE Publication January 2021

Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers

Abstract Objective: This study explored motivators and challenges/barriers to sharing personal genetic test results (GTR) with family members (FM). Methods: Semi-structured, in-depth interviews were conducted with 62 women who had a pathogenic or likely pathogenic (P/LP) variant in a BRCA, PALB2, CHEK2, or ATM gene. Selective qualitative data analysis focused on eliciting motivators and challenges/barriers …

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Permanent link to this article: https://inheritedcancer.net/pub10521/

ICARE Social Media Post January 2021

National Cancer Institute (NCI) Cancer Genetics PDQ

For further information, check out the National Cancer Institute’s PDQยฎ Cancer Genetics Summary available at: https://www.cancer.gov/publications/pdq/information-summaries/genetics

Permanent link to this article: https://inheritedcancer.net/post10521/

ICARE Social Media Post December 2020

Genetic Testing in Women with Breast Cancer

Approximately 4,000 women with breast cancer were tested for mutations in nine breast cancer genes – 6.2% had mutations in at least one of the nine genes, and 2.7% had mutations in either ๐˜ฝ๐™๐˜พ๐˜ผ1 or ๐˜ฝ๐™๐˜พ๐˜ผ2. Comparisons between women who did versus did not meet National Comprehensive Cancer Network (NCCN) guidelines for testing showed that: …

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Permanent link to this article: https://inheritedcancer.net/post122920/

ICARE Social Media Post December 2020

Cost-Effectiveness of Maintenance Olaparib for Germline BRCA-Mutated Metastatic Pancreatic Cancer

For further information, read the article available at: https://jnccn.org/…/journals/jnccn/18/11/article-p1528.xml

Permanent link to this article: https://inheritedcancer.net/post122220/

ICARE Social Media Post December 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

For additional details, read the articles at the links below: ๐Ÿญ๐Ÿต๐Ÿต๐Ÿต: https://pubmed.ncbi.nlm.nih.gov/10617473/ ๐Ÿฎ๐Ÿฌ๐Ÿฌ๐Ÿฎ: https://pubmed.ncbi.nlm.nih.gov/12442270/ ๐Ÿฎ๐Ÿฌ๐Ÿฌ๐Ÿด: https://pubmed.ncbi.nlm.nih.gov/18178638/

Permanent link to this article: https://inheritedcancer.net/post121820/

ICARE Social Media Post December 2020

CDH1 Cancer Risks

When a ๐˜พ๐˜ฟ๐™ƒ1 mutation is identified, several factors should be considered to figure out what the cancer risks might be and what medical management should be advised. Specifically, differences in cancer risks among those with a ๐˜พ๐˜ฟ๐™ƒ1 mutation are not well understood.   Identifying a ๐˜พ๐˜ฟ๐™ƒ1 mutation in families with hereditary diffuse gastric cancer (HDGC) …

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Permanent link to this article: https://inheritedcancer.net/post121520/

ICARE Publication December 2020

Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women

Abstract Background: The risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women …

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Permanent link to this article: https://inheritedcancer.net/pub121420/

ICARE Social Media Post December 2020

PALB2-associated Metastatic Breast Cancer

For further information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151

Permanent link to this article: https://inheritedcancer.net/post121120/

ICARE Featured Video December 2020

NCCN Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines

Below you may watch a featured video from the December 2020 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf  

Permanent link to this article: https://inheritedcancer.net/video121020/

ICARE Social Media Post December 2020

New NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Guidelines

The National Comprehensive Cancer Network (NCCN) released new guidelines on November 20th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/…/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/post120820/

ICARE Social Media Post December 2020

Broader Germline Testing for Urothelial Cancer

The most common inherited form of urothelial cancers is Lynch Syndrome. However, a study showed that of 586 individuals with urothelial cancer, 80 had a mutation in an inherited cancer gene (14%). Mutations in several genes were observed; however, ๐™ˆ๐™Ž๐™ƒ2 and ๐˜ฝ๐™๐˜พ๐˜ผ2 were both significantly associated with urothelial cancer (odds ratio of 3.7).   Confirmatory …

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Permanent link to this article: https://inheritedcancer.net/post120420/

ICARE Social Media Post December 2020

Breast Cancer Polygenic Risk Score May Help Predict Risk of Contralateral Disease

For further information, view the article available at: https://www.sciencedirect.com/…/pii/S0002929720303219

Permanent link to this article: https://inheritedcancer.net/post120120/

ICARE Social Media Post November 2020

Olaparib May Be Cost-Effective Maintenance Treatment For Women With Newly Diagnosed Ovarian Cancer and BRCA Mutation

For further information, view the article available at: https://www.gynecologiconcology-online.net/…/fulltext

Permanent link to this article: https://inheritedcancer.net/post112720/

ICARE Social Media Post November 2020

Impact of Pregnancy After Breast Cancer in Women With Deleterious Germline BRCA Mutations

Check out the original article by visiting: https://pubmed.ncbi.nlm.nih.gov/32673153/

Permanent link to this article: https://inheritedcancer.net/post112420/

ICARE Social Media Post November 2020

ASCO Guideline Updates: Breast Cancer

The American Society of Clinical Oncology (ASCO) published updated guidelines for the management of hereditary breast cancer for the following gene carriers:   ๐˜ฝ๐™๐˜พ๐˜ผ1/2 โ€ข Consider breast-conserving therapy โ€ข Consider nipple-sparing mastectomy, if medically appropriate โ€ข Advanced breast cancer: โซธ PARP inhibitors (olaparib, talazoparib) preferred over non-platinum single agent chemotherapy โซธ Platinum agents are recommended …

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Permanent link to this article: https://inheritedcancer.net/post112020/

ICARE Social Media Post November 2020

ASCO Guidelines for Patients with Metastatic Pancreatic Cancer

For additional details, refer to the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01364

Permanent link to this article: https://inheritedcancer.net/post111720/

ICARE Social Media Post November 2020

Polygenic Risk Scores in Predicting Breast Cancer Risk

For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/PO.19.00360

Permanent link to this article: https://inheritedcancer.net/post111320/

ICARE Featured Video November 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

Below you may watch a featured video from the November 2020 Genetics Case Conference, which outlined how CHEK2 is NOT a Li-Fraumeni Syndrome gene. For additional details, read the articles at the links below: ๐Ÿญ๐Ÿต๐Ÿต๐Ÿต: https://pubmed.ncbi.nlm.nih.gov/10617473โ€‹ ๐Ÿฎ๐Ÿฌ๐Ÿฌ๐Ÿฎ: https://pubmed.ncbi.nlm.nih.gov/12442270โ€‹ ๐Ÿฎ๐Ÿฌ๐Ÿฌ๐Ÿด: https://pubmed.ncbi.nlm.nih.gov/18178638

Permanent link to this article: https://inheritedcancer.net/video111220/

ICARE Social Media Post November 2020

B-GREAT 2020 Newsletter

The B-GREAT 2020 Newsletter is now available! Check out this latest edition for research updates and information about racial inequalities in healthcare. You can read the newsletter by visiting: https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-Newsletter-2020.pdf. Please feel free to share with family members, friends, and/or your healthcare providers.  We will be publishing these newsletters twice a year starting in 2021. …

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Permanent link to this article: https://inheritedcancer.net/post111020/

ICARE Publication November 2020

Family communication of genetic test results among women with inherited breast cancer genes

Abstract Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons …

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Permanent link to this article: https://inheritedcancer.net/pub111020/

ICARE Social Media Post November 2020

Clinical Trial Participation Powers Patient’s Positive Attitude

Brooke Thomas has leaned on 12 years of experience as a medical social worker and found ways to stay positive and upbeat through it all – and she has a lot to be positive about these days, thanks to an amazing response to her treatment as part of a clinical trial at Vanderbilt-Ingram Cancer Center. …

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Permanent link to this article: https://inheritedcancer.net/post110620/

ICARE Social Media Post November 2020

Identifying Individuals At-Risk for Inherited Cancer: Disparities Among Ovarian Cancer Patients

This study highlights disparities among ovarian cancer patients. For further information, view the article at: https://pubmed.ncbi.nlm.nih.gov/30964716/

Permanent link to this article: https://inheritedcancer.net/post110320/

ICARE Social Media Post October 2020

CDH1: Cancer Risks and Risk Management

Gene: ๐˜พ๐˜ฟ๐™ƒ๐Ÿญ Cancer Risks and Management per NCCN Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021 and Gastric Version 3.2020: ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Breast cancer risk: Elevated at 55% – Recommend annual mammogram starting at age 30; consider breast MRI with contrast starting at age 30. ๐— ๐—ฒ๐—ป ๐—ฎ๐—ป๐—ฑ ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Stomach cancer risk: Elevated at 83% for women, and 67% …

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Permanent link to this article: https://inheritedcancer.net/post103020/

ICARE Social Media Post October 2020

Polygenic Risk Scores in Refining Breast Cancer Risks

For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768

Permanent link to this article: https://inheritedcancer.net/post102720/

ICARE Social Media Post October 2020

PTEN: Cancer Risks and Risk Management

Gene: ๐™‹๐™๐™€๐™‰ Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Breast cancer risk: Elevated at 85% – Recommend annual mammogram starting at age 30-35 (or 5-10 years before the earliest known breast cancer in the family); consider breast MRI with contrast starting at age 30-35; consider …

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Permanent link to this article: https://inheritedcancer.net/post102320/

ICARE Social Media Post October 2020

Three Genetic Variants Identified That May Raise Breast Cancer Risks in Men

For more information, view the article available at: https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djaa101/5885091

Permanent link to this article: https://inheritedcancer.net/post102020/

ICARE Social Media Post October 2020

TP53: Cancer Risks and Risk Management

Gene: ๐™๐™‹๐Ÿฑ๐Ÿฏ Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …

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Permanent link to this article: https://inheritedcancer.net/post101620/

ICARE Social Media Post October 2020

New ASCO Guidelines On Use Of PARP Inhibitors To Manage Ovarian Cancer

New guidelines for the use of PARP inhibitors to treat ovarian cancer among those with BRCA1 or BRCA2 mutations were published through the American Society of Clinical Oncology (ASCO) to guide providers about the role of this class of drugs in the management of this type of cancer. Link to the guidelines are available at: …

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Permanent link to this article: https://inheritedcancer.net/post101320/

ICARE Social Media Post October 2020

CHEK2: Cancer Risks and Risk Management

Gene: ๐˜พ๐™ƒ๐™€๐™†2 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021: ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40. ๐— ๐—ฒ๐—ป ๐—ฎ๐—ป๐—ฑ ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Colorectal Cancer Risk: Elevated …

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Permanent link to this article: https://inheritedcancer.net/post100920/

ICARE Featured Video September & October 2020

NCCN Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines

Below you may watch a featured video from the September 2020 and October 2020 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/video100820/

ICARE Social Media Post October 2020

Addition of Veliparib to Carboplatin/Paclitaxel in Previously Treated Patients With BRCA-Mutated Advanced Breast Cancer

Among BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that did not progress), compared to those treated with ONLY chemotherapy. To read the full article visit: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(20)30447-2/fulltext [This finding was previously outlined last year …

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Permanent link to this article: https://inheritedcancer.net/post100620/

ICARE Social Media Post October 2020

ATM: Cancer Risks and Risk Management

Gene: ๐˜ผ๐™๐™ˆ Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40. Ovarian cancer risk: Possibly increased, not well established – Manage based on family history. …

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Permanent link to this article: https://inheritedcancer.net/post100220/

ICARE Publication September 2020

Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation

Abstract Objective: BRCA mutation carriers face a high lifetime risk of developing ovarian cancer. The strong inverse association between breastfeeding and the risk of ovarian cancer is established in the general population but is less well studied among women with a germline BRCA1 or BRCA2 mutation. Method: Thus, we conducted a matched case-control analysis to …

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Permanent link to this article: https://inheritedcancer.net/pub93020/

ICARE Social Media Post September 2020

Living with Lynch 2020 Virtual Patient Workshop

SJoin the Colon Cancer Coalition and AliveAndKickn for the Living with Lynch 2020 Virtual Patient Workshop on๐—™๐—ฟ๐—ถ๐—ฑ๐—ฎ๐˜†, ๐—ข๐—ฐ๐˜๐—ผ๐—ฏ๐—ฒ๐—ฟ ๐Ÿต๐˜๐—ต ๐—ณ๐—ฟ๐—ผ๐—บ ๐Ÿญ๐—ฝ๐—บ-๐Ÿฑ๐—ฝ๐—บ ๐—˜๐—ง to hear unique patient perspectives and the latest information from experts on Lynch syndrome.  Visit https://www.livingwithlynch.org/2020-living-with-lynch to register for this free workshop today! 

Permanent link to this article: https://inheritedcancer.net/post92920/

ICARE Social Media Post September 2020

AACR Cancer Disparities Progress Report 2020

The American Association for Cancer Research (AACR) published a Cancer Disparities Progress Report. “… our limited knowledge of cancer biology in racial and ethnic minorities, including their inherited cancer predisposition and the genomic underpinnings of cancer initiation and progression, diminishes the potential of precision medicine in these populations.” This report discusses relevant information about inherited …

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Permanent link to this article: https://inheritedcancer.net/post92520/

ICARE Social Media Post September 2020

FDA Grants Breakthrough Therapy Status to MK-6482 for Treatment of Patients With VHL Disease-Associated Renal Cell Carcinoma

For additional information, please visit: https://www.onclive.com/view/fda-grants-breakthrough-status-to-mk-6482-for-select-vhl-disease-associated-rcc   Also check out the abstract presented at the 2020 ASCO meeting: https://meetinglibrary.asco.org/record/185945/abstract

Permanent link to this article: https://inheritedcancer.net/post92220/

ICARE Social Media Post September 2020

Rucaparib May Have Antitumor Activity in Male BRCA Carriers with Metastatic Prostate Cancer

For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01035

Permanent link to this article: https://inheritedcancer.net/post91820/

ICARE Social Media Post September 2020

ICARE Summer 2020 Newsletter

The ICARE Summer 2020 Newsletter is now available! Check out this latest edition for recent research and clinical updates as well as a Q&A with a nationally renowned clinical geneticist from Vanderbilt-Ingram Cancer Center.    You can read the newsletter by visiting: https://inheritedcancer.net/wp-content/uploads/ICARE-2020-Summer-Newsletter.pdf    Please feel free to share with family members, friends, and/or your …

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Permanent link to this article: https://inheritedcancer.net/post91620/

ICARE Social Media Post September 2020

NCCN Genetic Testing Criteria Updates by Cancer

The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing criteria by cancer type as follows:   Breast Cancer:  Broadened to include relatives with ALL grades of prostate cancer (not just high-grade) Now having multiple breast cancer diagnoses is NOT dependent on whether the diagnoses were …

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Permanent link to this article: https://inheritedcancer.net/post91520/

ICARE Social Media Post September 2020

NCCN Breast Cancer Pathology Updates

The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/post91420/

ICARE Publication September 2020

Strategies to enhance identification of hereditary breast cancer gene carriers

No abstract available Reid S, et al. Strategies to enhance identification of hereditary breast cancer gene carriers. Expert Rev Mol Diagn. 2020 Sep; 20(9):861-865. Epub 2020 Sep 11. PMID: 32856489. 

Permanent link to this article: https://inheritedcancer.net/pub91120/

ICARE Social Media Post September 2020

NCCN Genetic Testing Choice Updates

The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing choices and considerations as follows: Choice of multi-gene panel may be guided by genes included, analyses offered, and financial assistance programs available for family testing Significant limitations in interpretations of polygenic risk scores:  NOT recommended for …

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Permanent link to this article: https://inheritedcancer.net/post91120/

ICARE Social Media Post September 2020

NCCN Breast Cancer Risk Management Updates by Gene

The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to breast cancer risk management recommendations by gene as follows:  NBN – high-risk breast screening was removed as there is insufficient evidence to support high cancer risks BARD1 – added consideration for high-risk breast screening starting at age 40  …

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Permanent link to this article: https://inheritedcancer.net/post91020/

ICARE Featured Video September 2020

Inherited Blood Cancers

Below you may watch a featured video from the September 2020 Genetics Case Conference, which focused on inherited blood cancers with guest expert Sarah Bannon, MS, CGC from the University of Texas MD Anderson Cancer Center.    

Permanent link to this article: https://inheritedcancer.net/video91020/

ICARE Social Media Post September 2020

ACMG Guidelines for Genetic Testing for All Breast Cancer

Check out Vanderbilt’s article about genetic testing considerations at: https://discover.vumc.org/2020/02/genetic-testing-considerations-for-breast-cancer-patients/     Check out the original document from the American College of Medical Genetics and Genomics at: https://www.nature.com/articles/s41436-019-0712-x

Permanent link to this article: https://inheritedcancer.net/post90820/

ICARE Social Media Post September 2020

GREM1 Duplication

The GREM1 gene leads to hereditary mixed polyposis syndrome, characterized by multiple polyps of mixed pathology and high risks for colorectal cancer.   A specific duplication in the 5′ regulatory region of the GREM1 gene has been found in a subset of Ashkenazi Jewish individuals with hereditary mixed polyposis syndrome; therefore, GREM1 genetic testing is …

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Permanent link to this article: https://inheritedcancer.net/post90420/

ICARE Social Media Post September 2020

Biallelic Mutations in BRCA1 Cause Fanconi Anemia

BRCA1 is not typically thought to be one of the genes which cause Fanconi anemia. However, rare cases of individuals with biallelic BRCA1 mutations (mutations in both copies of the gene) have been reported. One case involved a woman who had breast cancer at age 23, and was born with multiple birth defects consistent with …

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Permanent link to this article: https://inheritedcancer.net/post90120/

ICARE Social Media Post August 2020

Older Women with Breast Cancer Have Higher Risks of Ovarian and Other Cancers

Among 4,500 post-menopausal women with breast cancer, 3.55% had a mutation in a gene associated with inherited breast cancer (3-fold higher than what was seen among women who were cancer-free). BRCA1/2 mutations were seen more frequently in women diagnosed with breast cancer at or below age 65 (2.21%) compared to those diagnosed after age 65 …

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Permanent link to this article: https://inheritedcancer.net/post82820/

ICARE Social Media Post August 2020

Pheochromocytoma and Paraganglioma Genetic Testing

More than 40% of patients with pheochromocytoma or paraganglioma, regardless of age and family history, carry an inherited gene mutation. Given that gene mutation carriers may benefit from gene-specific cancer screening, all individuals diagnosed with one of these tumors should seek genetic counseling to discuss genetic testing options. Genes that predispose to pheochromocytoma and paraganglioma …

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Permanent link to this article: https://inheritedcancer.net/post82520/

ICARE Social Media Post August 2020

Optimal Timing of Prophylactic Gastrectomy for CDH1 Carriers

Individuals with a CDH1 mutation and classic personal and family history of diffuse gastric (stomach) cancer have a very high risk of developing and dying from stomach cancer, if they do not have preventive surgery to remove their stomach. A simulation study to assess prophylactic total gastrectomy (PTG; the removal of the stomach to prevent …

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Permanent link to this article: https://inheritedcancer.net/post82120/

ICARE Social Media Post August 2020

MRI Surveillance Has Very Low Yield After Bilateral Mastectomy and Reconstruction

A study of 159 women, including BRCA carriers, who had bilateral mastectomy with reconstruction, underwent breast MRI screening. The results showed few women had detection of breast cancer through MRI, after their bilateral mastectomy. These results support the recommendation against screening MRI in women who have had bilateral mastectomy with reconstruction due to a diagnosis …

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Permanent link to this article: https://inheritedcancer.net/post81820/

ICARE Newsletter Summer 2020

Treatment Advances Among Those with Neurofibromatosis Type 1

There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Neurofibromatosis Type 1 (NF1):  The FDA granted selumetinib (a MEK inhibitor) breakthrough therapy designation for treatment of inoperable plexiform neurofibromas.

Permanent link to this article: https://inheritedcancer.net/8nls2020/

ICARE Newsletter Summer 2020

Treatment Advances Among Those with Lynch Syndrome

There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Lynch Syndrome:  Colorectal Cancer: Among patients with MSI-H or MMR-deficient colorectal cancers (frequently seen among those with Lynch syndrome), pembrolizumab …

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Permanent link to this article: https://inheritedcancer.net/7nls2020/

ICARE Newsletter Summer 2020

Ask the Expert

In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the …

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Permanent link to this article: https://inheritedcancer.net/6nls2020/

ICARE Newsletter Summer 2020

Identifying Individuals At-Risk for Inherited Cancer

We have known for a while that many people who have mutations in BRCA1/2 and other inherited cancer risk genes are unaware of their mutation as they have not yet had genetic testing. A recent study among women aged 20 or older living in California and Georgia, which included almost 80,000 breast cancer patients and …

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Permanent link to this article: https://inheritedcancer.net/4nls2020/

ICARE Newsletter Summer 2020

Community Spotlight

PTEN is one of the bodyโ€™s tumor suppressor genes, which controls cell growth. When a PTEN mutation is present, cells may grow uncontrollably, causing tumors to develop that may become cancerous. A patient born with a PTEN mutation is at high risk for developing breast, thyroid, kidney, colon, and endometrial cancer. My PTEN journey began …

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Permanent link to this article: https://inheritedcancer.net/spotlightnls2020/

ICARE Newsletter Summer 2020

Treatment Advances Among Those with Von-Hippel Lindau (VHL) Disease

There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Von-Hippel Lindau (VHL) Disease:  Among patients with VHL-associated clear cell renal cell carcinoma (RCC), a recent study suggested potential benefit …

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Permanent link to this article: https://inheritedcancer.net/9nls2020/

ICARE Newsletter Summer 2020

Treatment Advances Among BRCA1/2 Carriers

There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: BRCA1/2 Carriers:  Breast Cancer: For those with later stage or metastatic breast cancer, the FDA currently has approvals for the use …

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Permanent link to this article: https://inheritedcancer.net/2nls2020/

ICARE Newsletter Summer 2020

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines (Version 1.2020, posted July 21, 2020) For individuals with Lynch Syndrome: Cancer risks were updated based on information from recent studies: Main updates included cancer risks in PMS2 (endometrial, ovarian, and prostate cancer), MSH2 and EPCAM (prostate and brain cancer), and MSH6 (prostate …

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Permanent link to this article: https://inheritedcancer.net/1nls2020/

ICARE Newsletter Summer 2020

Guideline-Concordant Care Among Women with Inherited Cancer Gene Mutations

Testing for inherited cancer among breast cancer patients has tremendous potential to guide appropriate care following testing. Yet, a number of efforts suggest that women are not consistently receiving care according to current national guidelines based on their genetic test result. In fact, results from studies suggest many women for whom risk-reducing mastectomy would not …

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Permanent link to this article: https://inheritedcancer.net/3nls2020/

ICARE Newsletter Summer 2020

Polygenic Risk Scores and Colon Cancer

A recent study focused on how polygenic risk scores (PRS) may be related to colorectal cancers. Of note, PRS are calculated using genetic differences throughout someoneโ€™s DNA, in combination with their clinical and family history of cancer. PRS, alongside environmental and lifestyle risk factors, may help to identify people who may benefit from screening at …

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Permanent link to this article: https://inheritedcancer.net/5nls2020/

ICARE Social Media Post August 2020

Inherited Prostate Cancer Risk

Over 600,000 men age 40 and older who were part of a family with at least three consecutive generations affected with prostate cancer were studied from the Utah Population Database. Findings from this study showed that: 36,000 had prostate cancer (5.9%) 2,500 had early-onset disease (7%) 4,000 had lethal disease (11.1%) 15,000 had clinically significant …

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Permanent link to this article: https://inheritedcancer.net/post81420/

ICARE Social Media Post August 2020

CDC Resource for Free Breast Cancer Screening

We are here to help! Our followers asked us to provide information about screening resources for women with hereditary breast cancer. We would like to make folks aware about a CDC program that provides free breast cancer screening for women who are uninsured and underinsured. โฃโฃ โฃโฃ Check out more information at: https://www.cdc.gov/cancer/nbccedp/ โฃโฃ

Permanent link to this article: https://inheritedcancer.net/post81120/

ICARE Social Media Post August 2020

Presymptomatic BRCA1/2 Carriers May Have Better Outcomes

Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2768011

Permanent link to this article: https://inheritedcancer.net/post80720/

ICARE Social Media Post August 2020

Disparities in BRCA Counseling Across Diverse Populations

A recently published study based on data from our participants showed that few young Black women with breast cancer see a genetic counselor AND those with insurance are LESS likely to see a genetic counselor. โฃโฃ โฃโฃ For more information, check out the full study at: https://www.nature.com/articles/s41436-020-0762-0 

Permanent link to this article: https://inheritedcancer.net/post80420/

ICARE Social Media Post August 2020

Genes That Predispose African American Women to Breast Cancer

A recently published study based on data including our participants identified genes that predispose African American patients to breast cancer.  For more information, check out the full study at: https://academic.oup.com/jnci/article/doi/10.1093/jnci/djaa040/5838706.

Permanent link to this article: https://inheritedcancer.net/post80320/

ICARE Social Media Post July 2020

Cancer Risks in Men with BRCA1 and BRCA2 Pathogenic Variants

Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2767423

Permanent link to this article: https://inheritedcancer.net/post73120/

ICARE Social Media Post July 2020

Updates to 2020 NCCN Genetic/Familial Colorectal Guidelines

The National Comprehensive Cancer Network (NCCN) released new guidelines for 2020 on July 21, 2020. The big changes included refining some of the risks for genes involved in Lynch Syndrome, and providing specific guidance about cancer screening that may slightly differ by gene. You can check out the full guidelines by creating a FREE account …

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Permanent link to this article: https://inheritedcancer.net/post72420/

ICARE Social Media Post July 2020

Racial Inequalities in Genetics

[ngg src=”galleries” ids=”1″ display=”basic_slideshow” arrows=”1″ show_thumbnail_link=”0″]It is important to talk about racial inequalities in healthcare as it affects the care received among Black patients. Through our research efforts, we not only want to address the issue of racism but also think about ways to make healthcare more equitable. A recently published study including our research …

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Permanent link to this article: https://inheritedcancer.net/post72120/

ICARE Social Media Post July 2020

Breast Cancer Risks May be Higher in Women with Two CHEK2 Mutations Versus One CHEK2 Mutation

A study comparing women with two CHEK2 mutations to one CHEK2 mutation showed that those with two mutations were: -more likely to get breast cancer (80.6% versus 41.2%) -more likely to be diagnosed at or below age 50 (61.3% versus 23.9%) -more likely to have a second breast cancer diagnosis (22.6% versus 8.1%) These findings …

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Permanent link to this article: https://inheritedcancer.net/post71720/

ICARE Social Media Post July 2020

Individuals with a First-Degree Relative with Blood Cancer Are at Increased Risk for Blood-Related Cancer

Individuals with a first-degree relative (for example, parent, sibling, or child) with blood cancer, such as lymphoma, have a higher chance of being diagnosed with blood-related cancer (i.e., hematologic malignancy), according to a recent study. The risk to develop certain blood cancers depends on how closely related the relative is (e.g., higher risks for first-degree …

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Permanent link to this article: https://inheritedcancer.net/post71420/

ICARE Social Media Post July 2020

BRCA1/2 and Other Gene Carriers with Breast Cancer Donโ€™t Always Receive Recommended Treatment

BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines. Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful. These findings highlight the need for …

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Permanent link to this article: https://inheritedcancer.net/post71020/

ICARE Featured Video July 2020

BAP1

Below you may watch a featured video from the July 2020 Genetics Case Conference, which focused on BAP1 with guest expert Dr. Mohamed Abdel-Rahman from The Ohio State University.     To learn more about the BAP1 study, please click here. To refer your patients to the BAP1 study, please contact The Ohio State University BAP1 …

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Permanent link to this article: https://inheritedcancer.net/video70920/

ICARE Publication July 2020

Update on multi-gene panel testing and communication of genetic test results

Abstract With technological advances, multi-gene panel testing has become increasingly used to identify patients at risk for hereditary breast cancer (HBC). There are currently evidence-based interventions and breast cancer screening strategies that exist for cancer prevention and early detection among patients with HBC. Moreover, in addition to the personal impact of identifying HBC, this information …

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Permanent link to this article: https://inheritedcancer.net/pub70820/

ICARE Social Media Post July 2020

Pancreatic Cancer Can Run in Families

Individuals with a family history of pancreatic cancer have a higher risk to develop pancreatic cancer. A recent study reported the following pancreatic cancer risks compared to the general population, based on relationship to an individual with pancreatic cancer: First-degree relative (e.g., parent, sibling, child) โ€“ 1.76 fold higher Second-degree relative (e.g., aunts, uncles, grandparents) …

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Permanent link to this article: https://inheritedcancer.net/post70720/

ICARE Social Media Post July 2020

Community Spotlight: Mari-Lynn Slayton

In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2016 ICARE Newsletter is Mari-Lynn Slayton, who was found to have a PALB2 mutation after two breast cancer diagnoses. Check out her story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post70220/

ICARE Publication July 2020

A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer

Abstract Background: Increasing demand for genetic testing for inherited cancer risk coupled with a shortage of providers trained in genetics highlight the potential for automated tools embedded in the clinic process to meet this demand. We developed and tested a scalable, easy-to-use, 12-minute web-based educational tool that included standard pretest genetic counseling elements related to …

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Permanent link to this article: https://inheritedcancer.net/pub70120/

ICARE Social Media Post June 2020

Advances in Treatment for Colorectal Cancer

On June 29, 2020, the FDA approved the use of Keytruda (pembrolizumab), as first-line treatment in unresectable or metastatic, microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) colorectal cancer. Among people with Lynch syndrome, the risk for colorectal cancer (which often has microsatellite instability and/or mismatch-repair deficiency) is raised. Keytruda (pembrolizumab) showed to double the progression-free …

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Permanent link to this article: https://inheritedcancer.net/post63020/

ICARE Social Media Post June 2020

Higher Chance of VUS Results in Minorities

Asian, Hispanic, and Black women with breast cancer had higher rates of variants of uncertain significance (VUS) on genetic test results for hereditary cancer genes compared to White women with breast cancer according to a recent study. Check out the full article at https://link.springer.com/article/10.1007%2Fs13187-019-01646-8

Permanent link to this article: https://inheritedcancer.net/post62620/

ICARE Social Media Post June 2020

Community Spotlight: Kelly Frank

June is cancer survivor month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2019 ICARE Newsletter is Kelly Frank, who was found to have a BRIP1 mutation after an ovarian cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post62320/

ICARE Social Media Post June 2020

Advances in Treatment for BRCA-Mutated Triple Negative Breast Cancer

In a study of 914 women with different breast cancer subtypes, overall pathologic complete response rates were: Higher in those with BRCA1/2 mutations (60.4% versus 46.7%) No differences were seen in those with mutations in other inherited cancer genes Among patients with triple-negative breast cancer, BRCA1/2 mutations had highest response rates to treatment in both …

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Permanent link to this article: https://inheritedcancer.net/post61920/

ICARE Social Media Post June 2020

Community Spotlight: Patricia Blumenthal

In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Summer 2018 ICARE Newsletter is Patricia Blumenthal, who was found to have a BRCA2 mutation. Check out her story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post61620/

ICARE Social Media Post June 2020

Advances in BRCA1/2 Breast Cancer Treatment

Through a randomized phase 2 study (called the INFORM trial) among BRCA1/2 carriers with breast cancer, cisplatin was no better in inducing pathologic complete remission compared to AC. The pathologic complete remission rate was 18% for cisplatin and 26% for AC. Cisplatin is not better than other chemotherapy for induction therapy for breast cancers in …

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Permanent link to this article: https://inheritedcancer.net/post61220/

ICARE Social Media Post June 2020

Community Spotlight: Christy Mattey

In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Winter 2017 ICARE Newsletter is Christy Mattey, who was found to have a CHEK2 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post60920/

ICARE Social Media Post June 2020

Advances in Treatment for Pancreatic Cancer: Cisplatin + Gemcitabine

In BRCA1/2 or PALB2 carriers with stage 3 or 4 pancreatic cancer, the combination of cisplatin + gemtricitabine with veliparib (a PARP inhibitor), did NOT seem to provide additional benefit over cisplatin + gemtricitabine alone. Through this phase 2 randomized control trial, response rates in both treatment arms were high with similar overall survival rates. …

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Permanent link to this article: https://inheritedcancer.net/post60520/

ICARE Social Media Post June 2020

Community Spotlight: Terry Arnold

June is Cancer Survivor Month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Summer 2017 ICARE Newsletter is Terry Arnold, who was found to have a BRCA1 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post60220/

ICARE Social Media Post May 2020

Platinum Based Chemotherapy for Metastatic Pancreatic Cancer

A recent study found that patients with metastatic pancreatic cancer who had mutations in the DNA repair genes (either inherited or just in the tumor) had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations. Check out the link to full article: https://clincancerres.aacrjournals.org/content/early/2020/05/20/1078-0432.CCR-20-0418

Permanent link to this article: https://inheritedcancer.net/post52920/

ICARE Social Media Post May 2020

Cancer Risk Management Among Female BRCA1/2, PALB2, CHEK2, and ATM Carriers in ICARE

A new article was recently published based on data from BRCA1/2, PALB2, CHEK2, and ATM carriers in ICARE. Findings suggest potential overtreatment through risk-reducing surgery among women with pathogenic/likely pathogenic variants in breast cancer genes. This highlights the importance of promoting guideline-adherent, risk-appropriate care. Check out the full article at https://rdcu.be/b4mbg

Permanent link to this article: https://inheritedcancer.net/post52620/

ICARE Social Media Post May 2020

Advances in Treatment for Metastatic Prostate Cancer: Olaparib

On May 19, 2020 the FDA approved the use of olaparib (Lynparza) as treatment in BRCA and other gene carriers (homologous recombination repair genes) with metastatic castration-resistant prostate cancer who have been treated with enzalutamide or abiraterone. Link to full article: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer

Permanent link to this article: https://inheritedcancer.net/post52220/

ICARE Publication May 2020

Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers

Abstract Purpose: Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes. Results: The 235 participants with P/LP variants …

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Permanent link to this article: https://inheritedcancer.net/pub52220/

ICARE Social Media Post May 2020

Advances in Treatment for Metastatic Prostate Cancer: Rucaparib

On May 15, 2020 the FDA approved the use of rucaparib (Rubraca) as treatment in BRCA carriers with metastatic castration-resistant prostate cancer who have been treated with androgen receptor-directed therapy and a taxane-based chemotherapy. Link to full article: https://www.fda.gov/drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate

Permanent link to this article: https://inheritedcancer.net/post51920/

ICARE Social Media Post May 2020

MRI May Detect Breast Cancer Earlier than Mammograms

The National Comprehensive Cancer Network (NCCN) currently recommends an annual breast MRI and an annual mammography for high-risk women (lifetime breast cancer risk at or above 20%). Among women at high risk for breast cancer, MRI detected breast cancer at an earlier stage than mammograms. Women with BRCA1/2 and TP53 were NOT included in this …

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Permanent link to this article: https://inheritedcancer.net/post51520/

ICARE Featured Video May 2020

Variant Classification

Below you may watch a featured video from the May 2020 Genetics Case Conference, which focused on deciphering variant reports and classification with guest expert Dr. Rebecca Smith from Vanderbilt University Medical Center.    

Permanent link to this article: https://inheritedcancer.net/video51420/

ICARE Social Media Post May 2020

Advances in Ovarian Cancer Treatment for BRCA1/2 Carriers: Olaparib & bevacizumab

On May 8, 2020 the FDA approved the use of olaparib (Lynparza) as first-line maintenance treatment in BRCA1/2 carriers (deleterious or suspected deleterious mutations) and/or a genomic instability, with advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy. Link to full article: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary

Permanent link to this article: https://inheritedcancer.net/post51220/

ICARE Publication May 2020

Patterns and covariates of benefit finding in young Black breast cancer survivors: A longitudinal, observational study

Abstract Objective: To examine the patterns and covariates of benefit finding over time among young Black breast cancer (BC) survivors. Methods: Black women (N = 305) with invasive BC diagnosed โ‰ค50 years were recruited an average of 1.9 years post-BC diagnosis. Participants completed self-report questionnaires of benefit finding, social support, and illness intrusions at three …

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Permanent link to this article: https://inheritedcancer.net/pub51120/

ICARE Social Media Post May 2020

Advances in Ovarian Cancer Treatment for BRCA1/2 Carriers: Olaparib

In recognition of World Ovarian Cancer Day, we’d like to share some exciting results from a study of women with ovarian cancer and a BRCA mutation: In a recent phase III trial, olaparib (PARP inhibitor) showed improved response and progression-free survival compared with chemotherapy (without platinum) in BRCA carriers with platinum-sensitive relapsed ovarian cancer who …

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Permanent link to this article: https://inheritedcancer.net/post50820/

ICARE Social Media Post May 2020

Advances in Treatment for Metastatic Prostate Cancer: Olaparib

Findings from a recent study showed that olaparib (PARP inhibitor) significantly improved progression-free survival in patients with BRCA1, BRCA2, or ATM genetic alterations. Benefits were also more broadly seen among patients with homologous recombination repair gene defects. Link to full article: https://www.nejm.org/doi/full/10.1056/NEJMoa1911440 Check out the ASCO post article at: https://www.ascopost.com/news/may-2020/olaparib-for-patients-with-mcrpc-and-homologous-recombination-repair-gene-alterations/

Permanent link to this article: https://inheritedcancer.net/post50620/

ICARE Social Media Post May 2020

CDH1: Gastric and Breast Cancer Risks

CDH1 mutation carriers are at higher risk for diffuse gastric cancer (men and women) and lobular breast cancer (women). Current strategies to manage high risks of gastric cancer include prophylactic gastrectomy (i.e., removal of the stomach), which can have severe physical and psychological implications. A recent study found that men have a higher risk of …

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Permanent link to this article: https://inheritedcancer.net/post50520/

ICARE Social Media Post May 2020

New Blood Test May Find Ovarian Cancer Early

A study of 80 women identified 4 proteins in blood that may help to detect ovarian cancer early. Further research is still needed with larger groups of women to determine if this new blood test would be a reliable test to find ovarian cancer early. Check out the full article at https://www.nature.com/articles/s41416-019-0544-0

Permanent link to this article: https://inheritedcancer.net/post50120/

ICARE Social Media Post April 2020

Advances in Treatment for Ovarian Cancer in BRCA1/2 Carriers: Niraparib

On April 29, 2020 the FDA approved the use of niraparib (Zeluja) as first-line maintenance treatment in BRCA1/2 carriers with advanced ovarian cancer! More details available at: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer

Permanent link to this article: https://inheritedcancer.net/post42920/

ICARE Social Media Post April 2020

PALB2: Cancer Risks and Risk Management

Gene: PALB2 Cancer Risks and Management (per NCCN version 1.2020): Women: Breast cancer risk: Elevated at 53% – Recommend annual breast MRI with contrast starting at age 30, and annual mammogram with consideration of tomosynthesis starting at age 30; Consider risk-reducing mastectomy. Ovarian cancer risk: Elevated at 5% – Manage based on family history. Men …

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Permanent link to this article: https://inheritedcancer.net/post42820/

ICARE Publication April 2020

Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors

No abstract available Conley C, et al. Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors. Breast J. 2020 Oct;26(10):2112-2114. Epub 2020 Apr 22. PMID: 32319712.

Permanent link to this article: https://inheritedcancer.net/pub42220/

ICARE Social Media Post April 2020

BRCA2: Cancer Risks and Risk Management

Gene: BRCA2 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …

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Permanent link to this article: https://inheritedcancer.net/post42120/

ICARE Social Media Post April 2020

ASCO Guideline: Genetic Testing for Ovarian Cancer

The American Society of Clinical Oncology (ASCO) recently published a guideline reinforcing the longstanding recommendation that all women diagnosed with epithelial ovarian cancer (EOC) be offered genetic testing for hereditary ovarian cancer genes. Many of these women (>15%) have an inherited mutation, most commonly BRCA1 or BRCA2. Identifying BRCA1/2 mutations may help guide cancer treatment. …

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Permanent link to this article: https://inheritedcancer.net/post41720/

ICARE Social Media Post April 2020

BRCA1: Cancer Risks and Risk Management

Gene: BRCA1 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …

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Permanent link to this article: https://inheritedcancer.net/post41420/

ICARE Social Media Post April 2020

Treatment Patterns in Women with Inherited Breast Cancer

Results from a population-based study of over 20,000 women from SEER registries of Georgia and California diagnosed with stage 0 to stage III breast cancer between 2014 and 2016 tested for inherited breast cancer were recently published. Findings suggest that women who test positive for certain mutations receive certain patterns of treatment. These patterns of …

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Permanent link to this article: https://inheritedcancer.net/post41020/

ICARE Social Media Post April 2020

EPCAM: Cancer Risks and Risk Management

Gene: EPCAM Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …

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Permanent link to this article: https://inheritedcancer.net/post4120/

ICARE Social Media Post March 2020

Cancer Treatment in Childhood and Treatment-Associated Polyposis

Treatment-associated polyposis (TAP) should be considered in patients who develop many colon polyps after treatment for a childhood or young adulthood cancer but do not have an identified mutation in a hereditary cancer gene. A recent study reported that 35% of patients with TAP developed over 50 colorectal polyps, and 94% had multiple types of …

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Permanent link to this article: https://inheritedcancer.net/post32720/

ICARE Social Media Post March 2020

PMS2: Cancer Risks and Risk Management

Gene: PMS2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 0%-15% – Consider risk-reducing hysterectomy. Men and Women: Colorectal cancer risk: Elevated at 12%-20% – Recommend colonoscopy every 1-2 years starting at age 20-25 Gastric cancer risk: Not well established – Consider upper endoscopy every 3-5 years beginning at …

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Permanent link to this article: https://inheritedcancer.net/post32420/

ICARE Social Media Post March 2020

Study Based on ICARE Participants with ATM and CHEK2 Mutations

Women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended. A recently published study based on ICARE participants with ATM and CHEK2 mutations suggested that most female family members of ATM and CHEK2 mutation carriers do not …

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Permanent link to this article: https://inheritedcancer.net/post32020/

ICARE Social Media Post March 2020

MSH6: Cancer Risks and Risk Management

Gene: MSH6 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: 17%-46% – Consider risk-reducing hysterectomy. Ovarian cancer risk: 1%-11% – Evidence is insufficient to make specific recommendations. Men and Women: Colorectal cancer risk: 15%-44% – Recommend colonoscopy every 1-2 years starting at age 20-25. Gastric cancer risk: 0%-5% – Consider upper …

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Permanent link to this article: https://inheritedcancer.net/post31720/

ICARE Social Media Post March 2020

Polygenic Risk Score and Colon Cancer Risk

A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someoneโ€™s DNA, in combination with clinical and family history of cancer. This score, alongside environmental and lifestyle risk factors, may help to identify people who might benefit from screening at an earlier age. Important facts about PRS: – It does NOT look for changes …

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Permanent link to this article: https://inheritedcancer.net/post31320/

ICARE Social Media Post March 2020

MSH2: Cancer Risks and Risk Management

Gene: MSH2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …

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Permanent link to this article: https://inheritedcancer.net/post31020/

ICARE Social Media Post March 2020

Colon Cancer and Polyp Risks

New colon cancer and polyposis genes recently identified include NTHL1, POLE, POLD1, MSH3, and RNF43. Previous studies suggest these genes raise the risk for colon cancer and polyposis; however, recent data suggest that environmental factors may also play an important role in risk. Ultimately, these genes account for a very small fraction of polyposis cases. …

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Permanent link to this article: https://inheritedcancer.net/post3620/

ICARE Social Media Post March 2020

MLH1: Cancer Risks and Risk Management

Gene: MLH1 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 43%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 5%-20% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Breast cancer risk: Elevated at 12%-17% – Manage same as general population. Men and Women: Colorectal cancer …

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Permanent link to this article: https://inheritedcancer.net/post3320/

ICARE Social Media Post February 2020

Advances in Treatment: Plexiform Neurofibromas in NF1

The FDA has granted a breakthrough therapy designation to selumetinib, a MEK inhibitor, for treatment of inoperable plexiform neurofibromas. These types of neurofibromas are almost exclusively seen in individuals with neurofibromatosis type 1 (NF1). These plexiform neurofibromas are benign tumors on the nerve sheaths and can develop anywhere in the body. These tumors typically cause …

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Permanent link to this article: https://inheritedcancer.net/post22820/

ICARE Social Media Post February 2020

Genetic Testing in Tumors versus Genetic Testing for Cancer Risk

There are different types of genetic/DNA tests offered to patients with cancer: 1) Tumor tests, mainly done to guide cancer treatment. 2) Blood or saliva tests (on normal DNA that individual was born with) to identify inherited cancer predisposition, which may also guide cancer treatment in some instances. Genetic testing of the tumor detects mutations …

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Permanent link to this article: https://inheritedcancer.net/post22620/

ICARE Newsletter Winter 2020

Community Spotlight

I was diagnosed with breast cancer in December 2018 and was found to be PALB2+. The PALB2 gene had not been tested for when my older sister was diagnosed with breast cancer and had genetic testing done four years earlier. This was new! My cancer was very similar to my sisterโ€™s, but being PALB2+ changed …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2020/

ICARE Newsletter Winter 2020

Treatment Advances Among Those with Inherited Prostate Cancer Predisposition

A recent study reported a high complete response rate among men with a BRCA1/2 mutation with metastatic, castration-resistant prostate cancer who were treated with niraparib (a PARP inhibitor) of 63% compared to 17% in the non-BRCA1/2 group.1 Based on this data, the Federal Drug Administration (FDA) granted breakthrough therapy designation to niraparib on October 3, …

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Permanent link to this article: https://inheritedcancer.net/3nlw2020/

ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-winter-2020new-study-based-on-icare-participants-with-atm-chek2-mutations/

ICARE Newsletter Winter 2020

Treatment Advances Among Those with Inherited Pancreatic Cancer Predisposition

Results from a recent study showed olaparib (a PARP inhibitor) nearly doubled the progression-free survival in BRCA1/2 carriers with metastatic pancreatic cancer.1 Based on this data, the FDA approved the use of olaparib as a first-line maintenance treatment in BRCA1/2 carriers with metastatic, platinum-sensitive pancreatic cancer. This represents another treatment advance in pancreatic cancer and …

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Permanent link to this article: https://inheritedcancer.net/2nlw2020/

ICARE Newsletter Winter 2020

PALB2 Mutations & Cancer Risk

A newly published study of 524 families with pathogenic PALB2 mutations from around the world, including almost 50 ICARE participants, represents the largest, most comprehensive effort to evaluate cancer risks.1 Results showed increased risks for female breast cancer (53%), ovarian cancer (5%), pancreatic cancer (2-3%), and male breast cancer (1%). Findings did not suggest higher …

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Permanent link to this article: https://inheritedcancer.net/6nlw2020/

ICARE Newsletter Winter 2020

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic

There were significant updates and restructuring of the guidelines, with some highlights included below: Substantial reorganization of the guidelines as follows: Now organized by organ site, rather than primarily by certain high penetrance genes Focused efforts to simplify genetic testing criteria Only one flow diagram included, to outline the โ€˜genetic testing processโ€™ Following scenarios now …

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Permanent link to this article: https://inheritedcancer.net/1nlw2020/

ICARE Newsletter Winter 2020

Updated Pancreatic Cancer Screening Guidelines through CAPS Consortium

The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated recommendations about pancreatic cancer screening through MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or an endoscopic ultrasound (EUS).1 Specifically, these guidelines now recommend that individuals with a CDKN2A or STK11 mutation begin screening at age 40. Screening for individuals with a BRCA1/2, ATM, PALB2, MLH1, or …

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Permanent link to this article: https://inheritedcancer.net/4nlw2020/

ICARE Newsletter Winter 2020

Ask the Expert

Through each newsletter, we give our participants an opportunity to have their questions answered by experts. If you have a question you would like addressed, please email the study team at ICARE@InheritedCancer.net for consideration in future newsletters. The following question was addressed by Ben Ho Park, MD, PhD, who is the Donna S. Hall Chair …

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Permanent link to this article: https://inheritedcancer.net/8nlw2020/

ICARE Newsletter Winter 2020

Lynch Syndrome Cancer Risks Across Genes

A worldwide study reporting on cancer risks among individuals with mutations in Lynch syndrome genes showed that there are substantial differences in cancer risks across the various genes.1 Specifically, the risk for colorectal cancer in those with  MLH1, MSH2, and MSH6 mutations was substantially higher than what was seen for those with PMS2 mutations. Additionally, …

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Permanent link to this article: https://inheritedcancer.net/5nlw2020/

ICARE Social Media Post February 2020

PMS2 and MSH6 Colorectal Cancer Risks

Individuals with Lynch syndrome have an increased risk of colorectal cancer (CRC) and other cancers. The level of CRC risk is different based on which gene they have a mutation in. Of note, MLH1 and MSH2 carriers have the highest risk of colorectal cancer, generally in the range of 43%-52% by age 70. A recent …

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Permanent link to this article: https://inheritedcancer.net/post22020/

ICARE Social Media Post February 2020

Ovarian Cancer Risks in BRCA1/2

The risk of ovarian cancer is raised in women with BRCA1/2 mutations. Recent findings suggest that higher body mass index (BMI) may further raise the risk of ovarian cancer in premenopausal BRCA1/2 carriers. Note that all women with BRCA1/2 mutations are at high risk for ovarian cancer, and should follow current National Comprehensive Cancer Network …

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Permanent link to this article: https://inheritedcancer.net/post21820/

ICARE Publication February 2020

Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors

Abstract Purpose: All women diagnosed with breast cancer (BC) โ‰คage 50 should be referred for genetic counseling (GC) and testing. We sought to compare differences in provider practices and access across a racially and ethnically diverse population of young BC survivors. Methods: A registry-based sample of women diagnosed with invasive BC โ‰คage 50 from 2009 to 2012 …

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Permanent link to this article: https://inheritedcancer.net/pub21820/

ICARE Social Media Post February 2020

Characteristics and Patterns of Spread for BRCA-associated Breast Cancers

BRCA1/2 have distinct characteristics and patterns of spread. A recent study evaluated the characteristics of BRCA1/2 carriers and found that 73% ofBRCA1-associated breast cancers were triple negative; and 72% of BRCA2-associated breast cancers were hormone receptor positive. There were also distinct pattern of spread of breast cancer, with BRCA1 carriers more likely to experience lung …

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Permanent link to this article: https://inheritedcancer.net/post21320/

ICARE Social Media Post February 2020

Medication Use for Risk Reduction

Based on studies that show benefits of estrogen and androgen blockers in reducing breast cancer risk in high-risk women, the United States Preventative Service Task Force (USPSTF) recommends that clinicians offer risk-reducing medications to women at increased risk for breast cancer; however, they recommend against routine use of these medications in average-risk women. Hormone receptor …

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Permanent link to this article: https://inheritedcancer.net/post21120/

ICARE Social Media Post February 2020

Lynch Syndrome Cancer Risks Across Genes

A worldwide study suggests that risks for cancers for the various Lynch syndrome genes have some differences. The risk of colorectal cancer for those with a mutation in the MLH1, MSH2 and MSH6 genes is higher than what is seen for carriers of a PMS2 mutation. Additionally, men with MSH2 gene mutations have a higher …

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Permanent link to this article: https://inheritedcancer.net/post2720/

ICARE Social Media Post February 2020

Differences in Pancreatic Cancer Screening Recommendations from the National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium

The National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium recently updated pancreatic cancer screening recommendations. However, there are some differences between these recommendations. Specifically, screening with annual MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or endoscopic ultrasound (EUS) is recommended as follows for NCCN versus CAPS: STK11 regardless of family history: …

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Permanent link to this article: https://inheritedcancer.net/post2620/

ICARE Social Media Post February 2020

Updated Pancreatic Cancer Screening Guidelines through the International Cancer of the Pancreas Screening (CAPS) Consortium

The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated pancreatic cancer screening recommendations. The recommendations include: Screening with MRI/magnetic retrograde cholangiopancreaography (MRCP) and/or endoscopic ultrasound (EUS) The screening was recommended for the following individuals: CDKN2A and STK11 mutation carriers starting at age 40 BRCA1/2, ATM, PALB2, MLH1, and MSH2 mutation carriers (if …

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Permanent link to this article: https://inheritedcancer.net/post2420/

ICARE Social Media Post January 2020

Advances in Treatment for Lynch Syndrome-Related Endometrial Cancer

A recent phase II study showed increased response to an immunotherapy drug (avelumab), in women with endometrial cancer with mismatch repair deficiency. Among women with Lynch Syndrome, the risk for endometrial cancer (which often has mismatch repair deficiency) is raised. This new study shows promising treatment options for women with endometrial cancer and Lynch syndrome …

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Permanent link to this article: https://inheritedcancer.net/13020/

ICARE Social Media Post January 2020

New Gene: DUOX2

DUOX2 represents a newly identified gene that might predispose patients to thyroid cancer (specifically, โ€˜non-medullaryโ€™ thyroid cancer). The specific gene change (or โ€˜mutationโ€™) that leads to thyroid cancer predisposition is known as Y1203H Additional studies are needed to confirm this association. Check it out at ASCO Post: https://tinyurl.com/sw3ew63 ๐จ๐ซ you can access the article at …

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Permanent link to this article: https://inheritedcancer.net/post12420/

ICARE Publication January 2020

Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers

Abstract Background: With the increasing use of multigene panel tests, pathogenic and likely pathogenic (P/LP) variants are identified more frequently in the moderate-penetrance breast cancer genes ATM and CHEK2. Lifetime breast cancer risk among women with P/LP variants in these genes generally exceeds 20%, meeting the threshold at which high-risk breast cancer screening through breast magnetic …

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Permanent link to this article: https://inheritedcancer.net/pub12220/

ICARE Social Media Post January 2020

New Gene: RABL3

About 10% of pancreatic cancers are thought to be the result of an inherited mutation. All of the genes that predispose patients to pancreatic cancers have not yet been discovered. Recently, a new gene known as RABL3 was linked to pancreatic cancer. This gene may increase the risk of hereditary pancreatic cancer. Additional studies are …

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Permanent link to this article: https://inheritedcancer.net/post12120/

ICARE Social Media Post January 2020

Ovarian Cancer Screening in BRCA1 Carriers

A new study of Polish BRCA1 carriers showed that screening through transvaginal ultrasound was not effective or  reliable in detecting ovarian cancer early. Consequently, preventive oophorectomy remains the only proven method to lower ovarian cancer risks and increase survival. Check out the article at: https://www.ncbi.nlm.nih.gov/pubmed/31500890. Check out the NCCN ovarian cancer screening recommendations for BRCA1 …

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Permanent link to this article: https://inheritedcancer.net/post11720/

ICARE Social Media Post January 2020

Racial Disparities in Genetic Testing for Women with Ovarian Cancer

Women of non-European ancestry diagnosed with ovarian cancer have lower rates of referral for genetic testing despite current national guidelines stating ALL women with ovarian cancer and/or a close-blood relative with ovarian cancer should be offered genetic counseling and testing. One study reported that only 1/3 of Black, Latina, and Asian women were referred for …

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Permanent link to this article: https://inheritedcancer.net/post11620/

ICARE Social Media Post January 2020

Polygenic Risk Scores

A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someoneโ€™s DNA, in combination with clinical and family history of cancer. This unique type of score may be utilized to calculate the lifetime risk of breast cancer. Important facts about PRSโ€™s: Different from BRCA1/2 testing, which look for changes in these specific genes Should …

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Permanent link to this article: https://inheritedcancer.net/post11420/

ICARE Social Media Post January 2020

Women with BRCA1/2: Risk-reducing Mastectomy versus Screening

In a study of 5000 healthy female BRCA1/2 carriers (without a breast cancer diagnosis): BRCA1 carriers: after an average of over 10 years follow-up, survival was higher in those who had bilateral mastectomy (99.7%) compared to those who had breast screening through mammograms and breast MRIs (93%). BRCA2 carriers: no significant differences were seen between …

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Permanent link to this article: https://inheritedcancer.net/post11020/

ICARE Featured Video January 2020

PALB2

Below you may watch a featured video from the January 2020 Genetics Case Conference, which focused on PALB2 gene mutations with guest expert Dr. Marc Tischkowitz from the University of Cambridge.    

Permanent link to this article: https://inheritedcancer.net/video10920/

ICARE Social Media Post January 2020

Celebrating 10 Years of ICARE

  Happy New Year! 2020 represents a decade for ICARE We are celebrating 10 years of research, education, and engagement, through which we have enrolled nearly 3500 participants, including over 2000 gene mutation carriers, disseminated 15 newsletters, led and collaborated on multiple research projects, and impacted individuals affected by inherited cancer predisposition all over the …

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Permanent link to this article: https://inheritedcancer.net/post1920/

ICARE Publication January 2020

The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer

Abstract Despite higher incidence and mortality of breast cancer among younger Black women, genetic testing outcomes remain severely understudied among Blacks. Past research on disclosure of genetic testing results to family members has disproportionately focused on White, educated, high socioeconomic status women. This study addresses this gap in knowledge by assessing (a) to whom Black …

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Permanent link to this article: https://inheritedcancer.net/pub10720/

ICARE Social Media Post January 2020

Advances in Treatment for Pancreatic Cancer in BRCA Carriers

The FDA approved the use of olaparib, a PARP inhibitor, as first-line maintenance treatment in BRCA1/2 carriers with metastatic, platinum-sensitive, pancreatic cancer. Platinum-sensitive cancer is a cancer that responds to treatment with drugs that contain the metal platinum, such as carboplatin or cisplatin. Olaparib showed to nearly double the progression-free survival in BRCA1/2 carriers with …

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Permanent link to this article: https://inheritedcancer.net/post1320/

ICARE Social Media Post December 2019

Evaluation of PARP Inhibitors in BRCA-Associated Prostate Cancer

The FDA granted breakthrough therapy designation to niraparib (a PARP inhibitor) for the treatment of men with BRCA1/2 positive, metastatic castration-resistant, and heavily pre-treated prostate cancer. Results from a recent study show a 63% complete response rate in men with BRCA1/2 positive, metastatic castration-resistant prostate cancer treated with niraparib compared to 17% in the non- …

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Permanent link to this article: https://inheritedcancer.net/post122019/

ICARE Social Media Post December 2019

PALB2 Mutations and Cancer Risk

A new published study of 524 families with PALB2 mutations, including our very own ICARE participants, from around the world showed increased risks of female breast, ovarian, pancreatic, and male breast cancer. The level of risk for female breast cancer is enough to recommend cancer risk management. Cancer risk management includes screening or risk-reducing surgery. …

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Permanent link to this article: https://inheritedcancer.net/post121619/

ICARE Publication December 2019

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Abstract Purpose: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. Methods: We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate …

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Permanent link to this article: https://inheritedcancer.net/pub121619/

ICARE Social Media Post December 2019

American College of Medical Genetics and Genomics: Points-to-Consider Document: โ€œIs there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?โ€

                    The American College of Medical Genetics and Genomics (ACMG) put forth a Points-to-Consider document: โ€œIs there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?โ€ The document discusses: 1) Current data to support testing in breast cancer patients …

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Permanent link to this article: https://inheritedcancer.net/post121319/

ICARE Publication December 2019

Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

No abstract available Pal T, et al. Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Apr;22(4):681-685. Epub 2019 Dec 13. PMID: 33455826.

Permanent link to this article: https://inheritedcancer.net/pub121319/

ICARE Featured Video December 2019

NCCN Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines

Below you may watch a featured video from the December 2019 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines.  

Permanent link to this article: https://inheritedcancer.net/video121219/

ICARE Social Media Post December 2019

Patient Reported Outcomes In A Study of PARP Inhibitors in BRCA Carriers with Metastatic Breast Cancer

Did you know? PROs are impacting treatment advances in metastatic breast cancer. Olaparib increased progression-free survival among BRCA carriers with metastatic HER2- breast cancer. Thanks to patient reported outcomes, a new study now suggests it also improved patientsโ€™ quality of life! Check it out the new article published in October 2019 directly at https://www.ncbi.nlm.nih.gov/pubmed/31446213!

Permanent link to this article: https://inheritedcancer.net/post12819/

ICARE Social Media Post December 2019

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines (V1.2020)

We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …

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Permanent link to this article: https://inheritedcancer.net/post12419/

ICARE Social Media Post December 2019

Explaining Patient Reported Outcomes

The National Quality Forum defines patient reported outcomes (PROs) as โ€œany report of the status of a patientโ€™s health condition that comes directly from the patient.โ€ PROs have the potential to increase overall outcomes and care process and enhance patient and family centered care.

Permanent link to this article: https://inheritedcancer.net/post12319/

ICARE Publication November 2019

Sex Disparity Observed for Oncotype DX Breast Recurrence Score in Predicting Mortality Among Patients with Early Stage ER-Positive Breast Cancer

Abstract Purpose: Prognostic value of Oncotype DX Breast Recurrence Score (RS) in male patients with breast cancer is understudied. We evaluated associations of RS with overall mortality in male patients with breast cancer and compared it with female counterparts. Experimental design: With a cohort of 848 male and 110,898 female patients with breast cancer identified from the …

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Permanent link to this article: https://inheritedcancer.net/pub112019/

ICARE Featured Video November 2019

Polygenic Risk Scores

Below you may watch a featured video from the November 2019 Genetics Case Conference, which focused on Polygenic Risk Scores with guest expert Dr. Amanda Toland from The Ohio State University.    

Permanent link to this article: https://inheritedcancer.net/video111419/

ICARE Social Media Post November 2019

Educational Resources: The Family Link Between Breast and Ovarian Cancer in Black Women

The differences seen in access to healthcare across different racial groups are known as health disparities. To address the gap in awareness, we have pursued efforts to raise awareness about inherited breast cancer among African Americans. We are excited to introduce you to another invaluable resource, the Breast Cancer Genetics Research and Education for African American …

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Permanent link to this article: https://inheritedcancer.net/post11119/

ICARE Social Media Post November 2019

High Frequency of BRCA in Unselected Women with Metastatic Breast Cancer

Did you know? National practice guidelines currently recommend ALL women with metastatic (HER2-) breast cancer to get genetic testing for inherited cancer (including BRCA1/2 testing), because it can guide eligibility for treatment with PARP inhibitors. A new study led by our colleague at the Vanderbilt-Ingram Cancer Center, Dr. Ben Park, suggests that more women with …

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Permanent link to this article: https://inheritedcancer.net/post110719/

ICARE Publication November 2019

Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study

Abstract Background: Black women are overrepresented among premenopausal breast cancer (BC) survivors. These patients warrant genetic testing (GT) followed by risk-reducing behaviors. This study documented patterns and predictors of cancer risk-management behaviors among young black BC survivors after GT. Methods: Black women (n = 143) with a diagnosis of BC at the age of 50 years or …

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Permanent link to this article: https://inheritedcancer.net/pub110119/

ICARE Social Media Post October 2019

Lifestyle Factors Associated with Familial and Inherited Breast Cancer Risks

Body mass index (BMI) is an indicator of fat content in the body. A lower body mass index may reduce breast cancer risk in women, including those with a family history of breast cancer. However, a new study reported that higher BMI also increases breast cancer risk in the general population and those with a …

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Permanent link to this article: https://inheritedcancer.net/post102919/

ICARE Social Media Post October 2019

Physical Activity Associated with Familial and Inherited Breast Cancer Risks

BRCA1/2 carriers may benefit from physical activity to reduce breast cancer risks, just like women in the general population! We know that women in the general population benefit from physical activity to reduce their breast cancer risk, but a recent study showed that this benefit also extends to those with a BRCA1/2 mutation and those with …

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Permanent link to this article: https://inheritedcancer.net/post102819/

ICARE Social Media Post October 2019

BRCA Testing In Black Women

Did you know? Although BRCA testing has been around for over TWO decades, not all populations have benefitted equally from testing. In fact, our previous research has shown that black patients are less aware of BUT interested in genetic testingโ€ฆwhen they know about it. In addition, healthcare providers are less likely to identify and suggest …

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Permanent link to this article: https://inheritedcancer.net/post102419/

ICARE Social Media Post October 2019

Inherited Breast Cancer Among Latina Women

Latina women are at risk for inherited breast cancer: Breast cancer mortality rates are higher among Latina women compared to non-Hispanic White women. Latina women also have a higher prevalence of triple-negative breast cancer when compared to with non-Hispanic White women. Latina women are diagnosed with breast cancer at earlier ages, 56 years versus 63 …

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Permanent link to this article: https://inheritedcancer.net/post102319/

ICARE Social Media Post October 2019

Advances in Treatment for Advanced Breast Cancer in BRCA Carriers

Monotherapy with PARP inhibitors is FDA-approved for patients with metastatic breast cancer with BRCA mutations. BUT, does adding additional drugs (called โ€˜combination therapyโ€™) help? In BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that …

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Permanent link to this article: https://inheritedcancer.net/post101819/

ICARE Social Media Post October 2019

Advances in Early Stage Breast Cancer Treatment for BRCA Carriers

New benefits from a PARP inhibitor, talazoparib, among BRCA carriers with early stage breast cancer. The current FDA approvals for the use of PARP inhibitors is limited to women with metastatic (stage IV) breast cancer. These drugs are being tested in early stage breast cancer to shrink down the tumor (called neoadjuvant treatment) before surgery …

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Permanent link to this article: https://inheritedcancer.net/post101519/

ICARE Social Media Post October 2019

Male Breast Cancer Risk

Did you know? Beyonceโ€™s father, Matthew Knowles, was diagnosed with breast cancer. He states, โ€œwe used to think this was only an issue for women, but this is male or female.โ€ According to CBS news, โ€œhe is hoping that sharing his story as man with breast cancer will shine a light on the risk men …

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Permanent link to this article: https://inheritedcancer.net/post10619/

ICARE Publication September 2019

Overall Mortality After Diagnosis of Breast Cancer in Men vs Women

Abstract Importance: Survival differences between male and female patients with breast cancer have been reported, but the underlying factors associated with the disparity have not been fully studied. This understanding is fundamental to developing strategies for cancer treatment and survivorship care. Objective: To compare mortality between male and female patients with breast cancer and quantitatively evaluate the …

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Permanent link to this article: https://inheritedcancer.net/pub91919/

ICARE Social Media Post September 2019

Family Sharing Resources: GeneSHARE

With the tremendous advances in gene-based care among those with inherited cancer risk, we are trying to develop tools and strategies to make it easier for more people to benefit from genetic education and testing. We are proud to introduce you to GeneSHARE, a free online toolkit for YOU, to help share positive test results …

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Permanent link to this article: https://inheritedcancer.net/post91319/

ICARE Newsletter Summer 2019

Ask the Expert

The following question was addressed by Gillian Hooker, PhD, ScM, LCGC, who is the president-elect for the National Society of Genetic Counselors, Adjunct Associate Professor in the Division of Genetic Medicine at the Vanderbilt University Medical Center, and the Vice President of Clinical Development for Concert Genetics in Nashville, TN. Q. Why was the BRCA1/2 …

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Permanent link to this article: https://inheritedcancer.net/10nls2019/

ICARE Newsletter Summer 2019

Ovarian Cancer Treatment Advances for BRCA1/2 Carriers

A recently reported study of women with ovarian cancer and homologous recombination deficiency (HRD) who received a PARP inhibitor (niraparib) as fourth line or later treatment showed potential clinical benefit. Specifically, median overall survival after treatment was 19 months in the HRD-positive group (including those with BRCA1/2 mutations) compared to 15.5 months in the HRD-negative …

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Permanent link to this article: https://inheritedcancer.net/4nls2019/

ICARE Newsletter Summer 2019

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines

(Version 1.2019, posted July 3, 2019) For Individuals with Lynch Syndrome: The cancer risk table was updated: Addition of new cancer risks by specific genes: breast and bladder cancers Updates of cancer risks by specific genes: ovarian, prostate, gastric, pancreatic, urothelial, small bowel, and brain/CNS cancers Removal of reference to sebaceous neoplasms Recommendations for cancer …

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Permanent link to this article: https://inheritedcancer.net/1nls2019/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: BRCA1/2

Looking at pregnancy history and breast cancer risk, a recent study of almost 8,000 women with BRCA1/2 mutations evaluated breast cancer risks related to pregnancy.1 Findings suggested the overall number of pregnancies was not associated with breast cancer risk in BRCA1 carriers; however, BRCA1 carriers with one pregnancy were at higher risk for breast cancer …

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Permanent link to this article: https://inheritedcancer.net/6nls2019/

ICARE Newsletter Summer 2019

Community Spotlight

Life was great at 45. I had nothing more than a few headaches and was a tad overweight. After a friend was diagnosed with breast cancer, I realized I had not had a mammogram in a couple of years, so I scheduled an appointment. One mass was found, but it was benign and nothing to …

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Permanent link to this article: https://inheritedcancer.net/spotlightnls2019/

ICARE Newsletter Summer 2019

Pancreatic Cancer Treatment Advances for BRCA1/2 Carriers

Results from a clinical trial of individuals with a BRCA1/2 mutation and pancreatic cancer showed that patients who received a PARP inhibitor (olaparib) for maintenance treatment had almost half the risk of their disease progressing when compared to receiving a placebo.1 In fact, after 2 years, 22.1% of patients who received olaparib had no disease …

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Permanent link to this article: https://inheritedcancer.net/3nls2019/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: CHEK2

In a study of inherited mutations in the CHEK2 gene, findings suggest there were two specific mutations that could predispose men to testicular germ cell tumors (TGCT). Specifically, 205 men with these tumors were tested for 48 DNA repair genes, and findings were then tested in other patient populations. These findings suggest that CHEK2 mutations …

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Permanent link to this article: https://inheritedcancer.net/7nls2019/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: DICER1

In a study of over 100 individuals with a DICER1 mutation, findings suggest that 5.3% of individuals had developed cancer by age 10, and 19.3% by age 50. After age 10, cancer risks for women were higher compared to men. Specific cancers for which risks were high included gynecologic and thyroid cancers. These findings are …

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Permanent link to this article: https://inheritedcancer.net/8nls2019/

ICARE Newsletter Summer 2019

Expansion of Criteria for BRCA1/2 Testing through the USPSTF

The U.S. Preventive Services Task Force (USPSTF) came out with new genetic testing guidelines for the BRCA1/2 genes, which has garnered substantial media attention. This task force consists of a team of primary care and preventive medicine healthcare experts to lower the chance of a conflict of interest  (which is also the reason that subspecialty …

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Permanent link to this article: https://inheritedcancer.net/5nls2019/

ICARE Newsletter Summer 2019

Prostate Cancer Treatment Advances for BRCA1/2 Carriers

There is now information to suggest that identifying inherited mutations in DNA repair genes, such as BRCA1/2 and other genes, in men with metastatic prostate cancer may open doors for other treatment options. Results of a phase 2 clinical trial among men with metastatic and heavily pre-treated prostate cancer were presented at the American Society …

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Permanent link to this article: https://inheritedcancer.net/2nls2019/

ICARE Newsletter Summer 2019

Expanding Our Thinking About Cancer Risks in TP53 Mutations and Li-Fraumeni Syndrome

Since expanded genetic testing has become available through multigene panel tests, studies have suggested that many people identified to have TP53 mutations do not have a typical personal or family history, which is usually seen with Li-Fraumeni syndrome (LFS). A recent study looking at over 300 individuals with TP53 mutations (identified through multi-gene panel testing) …

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Permanent link to this article: https://inheritedcancer.net/11nls2019/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: HAUS6, KANLS1, PCR1

Through a study of over 13,000 patients with serous ovarian cancers and almost 41,000 controls, 34 genes that raise the risk for ovarian cancer were identified. Additional laboratory studies were conducted to further characterize some of these genes, suggesting that three of these new genes may be essential (HAUS6, KANLS1, and PRC1). This study has …

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Permanent link to this article: https://inheritedcancer.net/9nls2019/

ICARE Publication April 2019

A Framework for Pilot Testing Health Risk Video Narratives

Abstract Narrative messages may be superior to didactic messages when providing educational information due to their natural format for information sharing, ability to engage audiences, and engender positive thoughts about the message. Although narrative messages are gaining popularity in health promotion, little guidance exists regarding the development phase. Our team created a psychosocial narrative video …

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Permanent link to this article: https://inheritedcancer.net/pub41819/

ICARE Publication April 2019

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

Abstract Background: Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017). Methods: Eligible subjects were identified …

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Permanent link to this article: https://inheritedcancer.net/pub41119/

ICARE Publication April 2019

A randomized controlled intervention to promote readiness to genetic counseling for breast cancer survivors

Abstract Objective: Breast cancer (BC) survivors with a genetic mutation are at higher risk for subsequent cancer; knowing genetic risk status could help survivors make decisions about follow-up screening. Uptake of genetic counseling and testing (GC/GT) to determine BRCA status is low among high risk BC survivors. This study assessed feasibility, acceptability, and preliminary efficacy of …

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Permanent link to this article: https://inheritedcancer.net/pub41119-2/

ICARE Newsletter Winter 2019

Other Advances in Cancer Treatment Among Cancer Patients with Inherited Disease: Familial Adenomatous Polyposis (FAP)

A new drug (sorafenib) showed promising results among patients with desmoid tumors, which are a type of tumor for which patients with Familial Adenomatous Polyposis (FAP) due to APC gene mutations are at risk. These tumors frequently grow and encompass internal organs and can be hard to remove surgically. The newly published research showed that …

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Permanent link to this article: https://inheritedcancer.net/9nlw2019/

ICARE Newsletter Winter 2019

Advances in Biomarkers to Detect Pancreatic Cancer Early

Early detection of pancreatic cancer is tremendously important, given that most patients who develop the disease are diagnosed at a later stage of the disease when it is usually incurable. Although screening through imaging studies has been proposed (i.e., magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic ultrasound),1 data to support this type of screening as an …

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Permanent link to this article: https://inheritedcancer.net/12nlw2019/

ICARE Newsletter Winter 2019

Community Spotlight

When I was 50 years old I was in pretty good physical shape and I thought I was finally getting six pack abs. I was wrong โ€“ those abs were a large football sized tumor, along with a variety of smaller tumors. I was diagnosed with Stage 4 ovarian cancer. I had a hysterectomy and fibroid removal …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2019/

ICARE Newsletter Winter 2019

Other Advances in Cancer Treatment Among Cancer Patients with Inherited Disease: Lynch Syndrome

Pertaining to metastatic prostate cancer, recently published data reported 8.1% of men with advanced prostate cancer had evidence of mismatch repair (MMR) mutations in their tumors. These types of mutations are frequently seen in tumors among Lynch syndrome patients. In addition, men with this type of tumor had much poorer survival. Tumors with MMR defects …

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Permanent link to this article: https://inheritedcancer.net/7nlw2019/

ICARE Newsletter Winter 2019

New Genes: GALNT12

A gene called GALNT12 may be yet another inherited colorectal cancer gene,1 as originally suggested by prior studies.2 The current study screened almost 500 colorectal cancer patients and identified 8 rare variants that may be disease causing. The frequency of variants among colorectal cancer patients was much higher than that observed among population-matched healthy controls, …

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Permanent link to this article: https://inheritedcancer.net/13nlw2019/

ICARE Newsletter Winter 2019

Other Advances in Cancer Treatment Among Cancer Patients with Inherited Disease: von Hippel-Lindau (VHL) Disease

Additional exciting advances include the results of a new drug (pazopanib) to treat an inherited cancer condition called von Hippel-Lindau Disease (VHL), in which patients are predisposed to kidney cancers, pancreatic tumors, and hemangioblastomas (i.e., tumors involving the blood vessels). Study results showed that among 31 patients with VHL, overall response rate with the drug …

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Permanent link to this article: https://inheritedcancer.net/8nlw2019/

ICARE Newsletter Winter 2019

Basal Cell Cancers May Be a Risk Factor to Predict Inherited Cancer Predisposition

An interesting area of progress to identify individuals with inherited risks included a study of over 13,000 individuals with six or more basal cell cancers (BCC) evaluated through a claims database. Results indicated ~20% of these individuals had a germline mutation in a DNA repair gene, including BRCA1/2, PALB2, and the Lynch syndrome genes, among …

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Permanent link to this article: https://inheritedcancer.net/10nlw2019/

ICARE Newsletter Winter 2019

Ask the Expert

The following question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the Clinical and Translational Hereditary Cancer Program for the Vanderbilt-Ingram Cancer Center in Nashville, Tennessee. Q. What are …

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Permanent link to this article: https://inheritedcancer.net/14nlw2019/

ICARE Newsletter Winter 2019

New Research and Approvals of PARP Inhibitor Drugs to Treat Prostate Cancer in BRCA Carriers

Treatment among patients with metastatic castration-resistant prostate cancer: A PARP inhibitor (rucaparib) was granted a breakthrough therapy designation in October 2018 for monotherapy (i.e., sole treatment) among men with metastatic castration-resistant prostate cancer (with a BRCA1/2 mutation) who have received at least one prior androgen receptor-directed treatment and taxane-based chemotherapy. This designation was granted based …

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Permanent link to this article: https://inheritedcancer.net/3nlw2019/

ICARE Newsletter Winter 2019

New Research and Approvals of PARP Inhibitor Drugs to Treat Breast Cancer in BRCA Carriers

Treatment among patients with advanced or metastatic breast cancer: A PARP inhibitor (talazoparib) was approved by the FDA on October 16, 2018 for BRCA carriers with HER2-negative locally advanced or metastatic breast cancer, based on results of the EMBRACA trial outlined in the last ICARE newsletter. Litton JK, et al. N Engl J Med. 2018 …

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Permanent link to this article: https://inheritedcancer.net/1nlw2019/

ICARE Newsletter Winter 2019

Expansion of Lynch Syndrome Tumor Spectrum Which May Have Treatment Implications

Although the Lynch syndrome tumor spectrum is thought to be limited to cancers of the colorectum, endometrium, ovaries, stomach, and a few other cancer types, a recent article suggested there might be a broader tumor spectrum than previously considered. Furthermore, colorectal and endometrial cancers which develop among Lynch syndrome patients frequently are determined on tumor …

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Permanent link to this article: https://inheritedcancer.net/6nlw2019/

ICARE Newsletter Winter 2019

Refining Treatment for Aggressive Prostate Cancer in Men with BRCA2

A recent study reported that a large proportion of men with aggressive prostate cancer have inherited cancer gene mutations. Specifically, among 400 patients with castration-resistant prostate cancer, 16.2% had a germline mutation in a DNA damage repair gene, including 3% with a BRCA2 mutation. Among BRCA2 carriers, survival was 17.4 months, which was much lower …

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Permanent link to this article: https://inheritedcancer.net/5nlw2019/

ICARE Newsletter Winter 2019

New Research and Approvals of PARP Inhibitor Drugs to Treat Ovarian Cancer in BRCA Carriers

First line maintenance treatment among patients newly diagnosed with advanced ovarian cancer: The results of a trial using a PARP inhibitor (olaparib) as maintenance treatment among ovarian cancer patients with advanced disease, a BRCA mutation, and complete or partial response to platinum-based chemotherapy showed that survival at 3 years was 60% among those who got …

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Permanent link to this article: https://inheritedcancer.net/2nlw2019/

ICARE Newsletter Winter 2019

High Proportion of Inherited Genes Detected Among Patients with Advanced Renal Cancer

In a study of advanced renal cell cancer patients, inherited cancer gene mutations were identified in 16%, of which 5.5% had mutations in genes related to renal cell cancer. Among the subgroup with non-clear cell renal cancer, about a fifth had an inherited cancer gene mutation, half of which had a gene mutation that could …

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Permanent link to this article: https://inheritedcancer.net/4nlw2019/

ICARE Newsletter Winter 2019

Testing Interpretation and Variant Reclassification

Results of germline genetic testing generally yield three types of test results: Deleterious (positive), Negative (no mutation detected), and Variant of Uncertain Significance (VUS). As more genes are tested, the chance for a positive result goes up, as does the chance of receiving a VUS result.1 VUS results tell us that it remains uncertain whether …

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Permanent link to this article: https://inheritedcancer.net/15nlw2019/

ICARE Newsletter Winter 2019

New Online Risk Calculator to More Accurately Predict Breast Cancer Risk

Prediction of breast cancer risk is important to identify those at highest and lowest risks, to help guide screening. A previously developed risk algorithm called Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) was recently extended to include truncating mutations in the BRCA genes, PALB2, CHEK2, and ATM. This online risk …

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Permanent link to this article: https://inheritedcancer.net/11nlw2019/

ICARE Publication January 2019

Genetic Testing Across Young Hispanic and Non-Hispanic White Breast Cancer Survivors: Facilitators, Barriers, and Awareness of the Genetic Information Nondiscrimination Act

Abstract Aims: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors. Materials and methods: Women diagnosed with BC of age โ‰ค50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire. …

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Permanent link to this article: https://inheritedcancer.net/pub12419/

ICARE Publication November 2018

Health beliefs associated with readiness for genetic counseling among high risk breast cancer survivors

Abstract We used the Health Belief Model (HBM) to explore factors associated with readiness for genetic counseling among breast cancer survivors. Breast cancer survivors meeting NCCN genetic counseling referral criteria completed questionnaires capturing demographic and clinical information and factors guided by the HBM, including health beliefs, psychosocial variables, and cues to action. Using logistic regression, …

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Permanent link to this article: https://inheritedcancer.net/pub112818/

ICARE Newsletter Summer 2018

The Role of Inherited Genes Increasingly Recognized in Pancreatic Cancer

A number of recent studies have suggested that a substantial number of individuals with pancreatic cancer have a mutation in an inherited cancer gene.  In a study of over 300 patients with pancreatic cancer (and with one or two family members with pancreatic cancer), 12% were found to have a mutation in 1 of 11 …

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Permanent link to this article: https://inheritedcancer.net/4nls2018/

ICARE Newsletter Summer 2018

Community Spotlight

I was aware from a very young age that breast cancer was part of our family. I knew that my great-grandmother (whom I never met) had breast cancer and my grandmother was diagnosed in her 50โ€™s. While I didnโ€™t grow up being afraid of the disease, I was far more aware of it than were …

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Permanent link to this article: https://inheritedcancer.net/spotlightnls2018/

ICARE Newsletter Summer 2018

Updates to NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines

(Version 1.2019, posted July 11, 2018) Regardless of family history, some individuals with a hereditary breast- and ovarian-related cancer may benefit from genetic testing to determine eligibility for targeted treatment The multi-gene testing section table was updated with: A potential association of ATM with ovarian cancer risk Potential increased risk of BARD1 with breast cancer …

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Permanent link to this article: https://inheritedcancer.net/1nls2018/

ICARE Newsletter Summer 2018

Prevention of Colorectal Cancer Among Individuals with Familial Adenomatous Polyposis (FAP)

Through a randomized trial, patients with FAP were treated with sulindac and erlotinib versus placebo for 6 months. Results of the study showed that those treated with sulindac and erlotinib had 70% fewer polyps than those in the placebo group. The lower number of polyps was seen in both those with an intact colorectum and …

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Permanent link to this article: https://inheritedcancer.net/9nls2018/

ICARE Newsletter Summer 2018

NTHL1: A New Gene for Inherited Colorectal Cancers

In a study of 51 individuals with multiple colon polyps drawn from 48 families, genetic testing through whole-exome sequencing identified 7 individuals (from 3 unrelated families) to have a mutation in both copies of their NTHL1 gene, and pedigree structure was consistent with autosomal recessive inheritance.1 All these individuals had colorectal cancer and a large …

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Permanent link to this article: https://inheritedcancer.net/6nls2018/

ICARE Newsletter Summer 2018

Updates to NCCN Genetic/Familial High-Risk Assessment: Colorectal Guidelines

For Individuals with Lynch Syndrome: Surveillance for gastric and small bowel cancer now indicates there is no clear data to support this, but surveillance can be performed every 3-5 years starting at age 40 Lack of evidence to make a recommendation for pancreatic or prostate cancer screening, beyond those already recommended through other NCCN Guideline …

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Permanent link to this article: https://inheritedcancer.net/2nls2018/

ICARE Newsletter Summer 2018

Inherited Leukemias: The Importance of TP53/Li-Fraumeni Syndrome and Other Genes

It has long been established that the risk for developing leukemia in childhood is high among individuals with Li-Fraumeni Syndrome; however, better understanding the characteristics of leukemia among these individuals is important to guide treatment approaches. In a study of children with Acute Lymphocytic Leukemia (ALL), those with a germline TP53 mutation (compared to those …

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Permanent link to this article: https://inheritedcancer.net/11nls2018/

ICARE Newsletter Summer 2018

Another PARP-Inhibitor Trial Among BRCA Carriers with Advanced Breast Cancer

In a Phase 3 clinical trial among BRCA carriers with advanced breast cancer, an oral PARP Inhibitor (talazoparib) was compared to standard chemotherapy.  Among those who received the PARP inhibitor, risk of disease progression or death was 46% lower, and the response rate was double. Furthermore, the side effect profile, quality-of-life measures, and breast cancer …

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Permanent link to this article: https://inheritedcancer.net/8nls2018/

ICARE Newsletter Summer 2018

Differences in Breast Cancer Risks Among Women with Lynch Syndrome

Breast cancer risks were recently reported among a sample of 423 women with mutations in one of the Lynch syndrome genes (MLH1, MSH2, MSH6, or PMS2).1 Results indicated that breast cancer risks were substantially higher among those with MSH6 and PMS2 mutations, compared to MLH1 and MSH2 mutations. In fact, breast cancer risk to age …

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Permanent link to this article: https://inheritedcancer.net/3nls2018/

ICARE Newsletter Summer 2018

New Data to Suggest Additional Genes Associated with Breast and Ovarian Cancer

A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …

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Permanent link to this article: https://inheritedcancer.net/7nls2018/

ICARE Newsletter Summer 2018

Refining Cancer Risks Among Individuals with Lynch Syndrome

Over the past year, multiple studies have refined risks and types of cancer among individuals with Lynch syndrome. Through a Scandinavian study, risks for 13 types of cancer (with colorectal cancers being excluded), were reported to be elevated with differences related to gender, age, and the gene in which mutation was present. Incidence rates of …

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Permanent link to this article: https://inheritedcancer.net/5nls2018/

ICARE Newsletter Summer 2018

Ask the Expert

The following question was addressed by Ronald D. Alvarez, MD, MBA who is Professor, Chairman, and Clinical Service Chief of the Department of Obstetrics and Gynecology at Vanderbilt University Medical Center in Nashville, Tennessee. Dr. Alvarez has been the recipient of several National Cancer Institute (NCI) and other industry funded grants in support of his …

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Permanent link to this article: https://inheritedcancer.net/10nls2018/

ICARE Newsletter Winter 2018

Community Spotlight

A cancer diagnosis is a life-changing event for every patient and their extended family. However, how we respond to this diagnosis are as individual as our very existence as evidenced by our looks and personalities. Following my diagnosis of stage 4 prostate cancer in 2014 at age 54 which had spread to my bones, I …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2018/

ICARE Newsletter Winter 2018

Advances in the Understanding of Inherited Prostate Cancer

Findings through a recent study reported that inherited cancer gene mutations were present in 8.2% of those with advanced or metastatic prostate cancer, which provides additional support to include this group of men in broader testing, particularly as targeted treatments based on inherited gene mutations becomes increasingly available.1 Another recent study suggested that those with …

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Permanent link to this article: https://inheritedcancer.net/10nlw2018/

ICARE Newsletter Winter 2018

The Role of โ€œNon-Truncatingโ€ Mutations in RAD51D on Ovarian Cancer Risk

As testing has broadened to include newer inherited cancer genes, studies have suggested that mutations which shorten the protein (โ€œtruncating mutationsโ€) in the RAD51D gene are associated with ovarian cancer.  However, a recent study examined ovarian cancer risks for a โ€œnon-truncatingโ€ change (a single base pair within the gene is changed which is called a …

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Permanent link to this article: https://inheritedcancer.net/3nlw2018/

ICARE Newsletter Winter 2018

Updates to NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines

(Version 1.2018, posted Oct. 3, 2017) Metastatic prostate cancer was added as an indication for evaluation and testing for the BRCA1 and BRCA2 genes Among BRCA1, BRCA2, TP53 and PTEN carriers, women between ages 25-29 may consider having an annual mammogram with consideration of tomosynthesis if a breast MRI is not available. Among female BRCA2 …

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Permanent link to this article: https://inheritedcancer.net/1nlw2018/

ICARE Newsletter Winter 2018

Getting Closer to Detecting Cancers Early Through a Blood Test?

A recent study reported on a single blood test, named โ€œCancerSEEKโ€, which can screen for 8 common types of cancer (ovarian, liver, stomach, pancreas, esophagus, colorectal, lung, and breast) and may help to identify the location at which the cancer started. This test evaluated the blood from over 1000 patients with Stage 1 to 3 …

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Permanent link to this article: https://inheritedcancer.net/2nlw2018/

ICARE Newsletter Winter 2018

Advances in New Treatments for Individuals with Lynch Syndrome

A recently published phase II clinical trial investigated the use of a new class of drugs (called PD-1 Inhibitors) in DNA mismatch repair-deficient/ microsatellite instability-high colorectal tumors (which are features seen in the majority of colorectal tumors from individuals with Lynch Syndrome) among patients with metastatic disease.1 Investigators found patients who received two PD-1 Inhibitors …

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Permanent link to this article: https://inheritedcancer.net/7nlw2018/

ICARE Newsletter Winter 2018

Refining Risks and Outcomes of Breast Cancer in BRCA Carriers

In an effort to further study breast cancer risks among BRCA carriers, a recently published study compared breast cancer risks among those with and without a close family member (first-degree relative) with breast cancer.1 Findings showed that risk for breast cancer by age 80 was 60.8% in BRCA1 carriers and 63.1% among BRCA2 carriers, with …

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Permanent link to this article: https://inheritedcancer.net/4nlw2018/

ICARE Newsletter Winter 2018

FDA Approval of PARP Inhibitor (Lynparza) for Treatment of Advanced Breast Cancer

On January 12, 2018, the FDA approved the first PARP Inhibitor (Lynparza) for treatment in patients with advanced breast cancer due to inherited BRCA mutations.1 This drug is already approved for certain BRCA carriers for advanced ovarian cancer. PARP inhibitors were originally developed to target the specific pathway through which cancer develops among those with …

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Permanent link to this article: https://inheritedcancer.net/6nlw2018/

ICARE Newsletter Winter 2018

Ask the Expert

The following question was addressed by Dr. Ingrid Meszoely is a breast surgeon and Clinical Director of the Vanderbilt Breast Center at One Hundred Oaks. She leads a high-risk clinic, through which she and her team of nurse practitioners manage patients with inherited breast cancer predisposition. Her research interests include both clinical and translational breast …

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Permanent link to this article: https://inheritedcancer.net/8nlw2018/

ICARE Newsletter Winter 2018

Study Suggests Inherited Cancer Genes Are Important in Pancreatic Cancer

In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …

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Permanent link to this article: https://inheritedcancer.net/9nlw2018/

ICARE Newsletter Winter 2018

Advances in Cancer Screening Among Li-Fraumeni Syndrome Patients

Several research groups from around the world that have conducted cancer screening among patients with Li-Fraumeni syndrome and a germline TP53 mutation have recently reported on their observations. Specifically, the National Cancer Institute group demonstrated that screening inclusive of rapid total body MRI detected cancers at an early stage,1 similar to findings published through other …

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Permanent link to this article: https://inheritedcancer.net/5nlw2018/

ICARE Newsletter Summer 2017

Ask the Expert

The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at the Womenโ€™s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Q. In women with a BRCA mutation and …

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Permanent link to this article: https://inheritedcancer.net/6nls2017/

ICARE Newsletter Summer 2017

Emerging FDA Approvals of Immunotherapy Among Patients With Metastatic MSI-H Cancers

Over the last few years, immunotherapy has emerged as an exciting new class of drugs. As early as 2015, immunotherapy through PD-1 Inhibitors among patients with MSI-H colorectal cancers was shown to be of potential benefit.1 As many individuals with Lynch Syndrome have cancers that are MSI-H and mismatch repair deficient, this class of drugs …

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Permanent link to this article: https://inheritedcancer.net/5nls2017/

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Risks Among BRCA Carriers Followed Over Time

Findings from an international study of over 6000 women with a BRCA1 mutation and almost 4000 women with a BRCA2 mutation followed for an average of 5 years were recently published.1 Results showed the risk of breast cancer by age 80 was ~70% for both BRCA1 and BRCA2 carriers. Rates of breast cancer increased until …

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Permanent link to this article: https://inheritedcancer.net/1nls2017/

ICARE Newsletter Summer 2017

Community Spotlight

After a long rainy summer filled with doctor visits, I was finally diagnosed with triple-negative inflammatory breast cancer (TN IBC) at the age of 49. I completed treatment in June 2008 and was grateful to have a new phase to my vocabulary โ€“ NED, โ€˜no evidence of diseaseโ€™. Since there was no cancer history in my …

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Permanent link to this article: https://inheritedcancer.net/spotlightnls2017/

ICARE Newsletter Summer 2017

New Results of a PARP Inhibitor Study Among BRCA Carriers with Metastatic Breast Cancer

Over the last decade, a new class of drugs called โ€œPARP Inhibitorsโ€ has been evaluated as a form of targeted treatment among BRCA carriers. Results were recently reported from a Phase 3 clinical trial among BRCA carriers with HER2-negative metastatic breast cancer who received two or less prior chemotherapy regimens for their metastatic disease. Study …

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Permanent link to this article: https://inheritedcancer.net/4nls2017/

ICARE Newsletter Summer 2017

What Are the Benefits of Adding a Mammogram to MRI for Breast Cancer Screening Among Women with BRCA Mutations?

Recently, researchers evaluated the benefit of adding a mammogram to MRI for breast cancer screening among ~2000 women with a BRCA1 or BRCA2 mutation. Results indicated that the addition of mammography to MRI did not substantially raise the chance of detecting breast cancer in the overall group. However, one-third of breast cancer cases diagnosed among …

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Permanent link to this article: https://inheritedcancer.net/7nls2017/

ICARE Newsletter Summer 2017

What Are New and Subsequent Cancer Risks Among Patients with Li-Fraumeni Syndrome?

Although individuals with Li-Fraumeni Syndrome (LFS), due to mutations in the TP53 gene, have a very high lifetime risk of cancer, risks of initial and subsequent cancers are not well defined. Through a group of patients with the classic form of LFS, researchers at the National Cancer Institute estimated their cancer risks. They evaluated a …

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Permanent link to this article: https://inheritedcancer.net/3nls2017/

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Associations for Genes Tested Through Multi-Gene Panels

As testing for multiple genes at the same time (โ€œmulti-gene panel testingโ€) has become increasingly available with tremendous advances in genetic testing technology, it has become critical to evaluate and refine cancer associations and levels of risk for many of these genes now tested. Through a commercial laboratory database of almost 100,000 results of multi-gene …

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Permanent link to this article: https://inheritedcancer.net/2nls2017/

ICARE Publication August 2017

A community-academic partnership to explore informational needs of African American women as a primer for cancer clinical trial recruitment

Abstract Background: African Americans (AAs) are less likely to participate in cancer clinical trials (CCTs) despite experiencing disproportionately higher rates of cancer mortality. As a way to address these ongoing disparities, this study sought to qualitatively explore informational needs regarding CCTs among AA women and identify message considerations for educational information targeting AA women and their …

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Permanent link to this article: https://inheritedcancer.net/pub82217/

ICARE Newsletter Winter 2017

Community Spotlight

On my 43rd birthday I was diagnosed with an advanced stage breast cancer. Although my BRCA1 and BRCA2 results were surprisingly negative, I was certain there must be a genetic component to my breast cancer since I was diagnosed at a fairly young age. I remained in contact with my geneticist, Dr. Georgia Wiesner, and …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2017/

ICARE Newsletter Winter 2017

Newly Approved PARP-Inhibitor (Rucaparib) to Treat BRCA Carriers with Ovarian Cancer

The FDA just approved another PARP inhibitor, rucaparib, for BRCA carriers with ovarian cancer who have already been treated with two or more chemotherapies. Among those with BRCA-mutant ovarian cancers, 54% had a partial or complete response to the drug with a median duration response of 9.2 months. The agency also approved a companion diagnostic …

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Permanent link to this article: https://inheritedcancer.net/6nlw2017/

ICARE Newsletter Winter 2017

Characterizing Breast Cancers That Develop Among Women with a CHEK2 Mutation

With increasing use of multi-gene panel tests, one of the genes in which mutations are frequently detected among breast cancer patients and others is the CHEK2 gene. This gene has been shown to have a 2-3 fold excess risk for breast cancer. There are many CHEK2 mutations that have been identified that generally fall into …

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Permanent link to this article: https://inheritedcancer.net/8nlw2017/

ICARE Newsletter Winter 2017

New Study Suggesting BRCA1/2 and ATM Are Associated with Aggressive Prostate Cancer

Among 799 patients with prostate cancer, the rate of BRCA1/2 mutations was much higher among those who passed away of prostate cancer (6.07%) compared to those with low risk disease (1.44%).1 Among the group that died of prostate cancer, those with BRCA1/2 or ATM mutations passed away at an earlier age and had a shorter …

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Permanent link to this article: https://inheritedcancer.net/3nlw2017/

ICARE Newsletter Winter 2017

NCCN Guidelines Version 1.2017: Genetic/Familial High-Risk Assessment: Breast and Ovarian

Additional guidance pertaining to cancer risk management was provided in the most recent version of the NCCN Guidelines for inherited breast and ovarian cancer. These guidelines now include an expanded table outlining cancer risks and management for each gene, taking into account the age at initiation of each risk management modality as well as footnotes …

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Permanent link to this article: https://inheritedcancer.net/1nlw2017/

ICARE Newsletter Winter 2017

A Newly Identified Inherited Colon Cancer Gene: FAN1

There continues to be rapid advances in identifying new genes involved in inherited cancer risk.  An example of yet another recently identified gene is FAN1, in which a nonsense variant (i.e. the premature change or loss of a protein) was identified following exome sequencing in 3 individuals from a family who met clinical criteria for …

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Permanent link to this article: https://inheritedcancer.net/4nlw2017/

ICARE Newsletter Winter 2017

Ask the Expert

The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at the Womenโ€™s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Q. Does salpingo-oophorectomy reduce the risk of breast …

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Permanent link to this article: https://inheritedcancer.net/7nlw2017/

ICARE Newsletter Winter 2017

The Potential Promise of Immunotherapy Targeted to Those with Bi-Allelic Mutations in Lynch Syndrome Genes

People with Lynch Syndrome have a non-working Lynch gene (โ€œmutationโ€), while the other copy of that gene is normal (recognizing that all of these genes come in pairs, with one member of the pair coming from each parent). Over the last few years, there has been an increased realization that some individuals have a mutation …

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Permanent link to this article: https://inheritedcancer.net/2nlw2017/

ICARE Newsletter Winter 2017

How Does Having a Mother with Breast Cancer and a BRCA Mutation Affect Adolescent Girls?

A recent study compared psychosocial adjustment and risk perception among 11 to 19 year old daughters of women with breast cancer, comparing those with a BRCA mutation versus those without.1 The overall findings from the study were reassuring, suggesting that adolescent girls from BRCA-positive families had higher self-esteem and similar psychosocial adjustment compared to their …

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Permanent link to this article: https://inheritedcancer.net/5nlw2017/

ICARE Newsletter Summer 2016

Cancer Chemoprevention in Individuals with Familial Adenomatous Polyposis (FAP)

Prior research has demonstrated that NSAIDs significantly reduce colonic and rectal polyp burden among individuals with FAP although their impact on outcomes remains to be determined.1,2 Recent data extended these results to the small intestine through completion of a randomized clinical trial among patients with FAP which demonstrated that use of sulindac and erlotinib compared …

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Permanent link to this article: https://inheritedcancer.net/7nls2016/

ICARE Newsletter Summer 2016

Practice Guideline Updates for NCCN Genetic/Familial High-Risk Assessment

The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called โ€œmulti-gene panel testingโ€), the Breast/Ovarian and Colorectal Panels sought to provide …

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Permanent link to this article: https://inheritedcancer.net/1nls2016/

ICARE Newsletter Summer 2016

What Are the Endometrial Cancer Risks Among BRCA Carriers?

Although BRCA mutations confer increased risk for ovarian, fallopian tube, and primary peritoneal cancer, there have been limited and conflicting risks reported for endometrial cancer. Consequently, current practice guidelines only recommend the removal of the fallopian tubes and ovaries as a risk-reducing option for BRCA carriers.1 Specifically, through a prospective study of 4500 women with …

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Permanent link to this article: https://inheritedcancer.net/9nls2016/

ICARE Newsletter Summer 2016

CHEK2 *1100delC Mutation Carriers: Breast Cancer Risk by Age and Tumor Type and Other Associated Cancer Risks

The CHEK2 *1100delC mutation is the most common โ€œtruncatingโ€ mutation (causing a shortened protein) in the CHEK2 gene among Europeans, with lifetime breast cancer risk in the range of 20-30% among female carriers. Results of data pooled from over 30 studies which included 40,000 breast cancer cases and 40,000 controls, showed that estrogen receptor (ER) …

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Permanent link to this article: https://inheritedcancer.net/6nls2016/

ICARE Newsletter Summer 2016

Practice Guideline Updates for NCCN Genetic/Familial High-Risk Assessment

The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called โ€œmulti-gene panel testingโ€), the Breast/Ovarian and Colorectal Panels sought to provide …

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Permanent link to this article: https://inheritedcancer.net/2nls2016/

ICARE Newsletter Summer 2016

Ask the Expert

The following question was addressed by Dr. Christine Laronga at the Moffitt Cancer Center: Q. How should bone health be monitored in women with a BRCA mutation after removal of the ovaries (i.e., risk-reducing salpingo-oophorectomy (RRSO))? A. Women with a BRCA mutation have a substantially high risk to develop ovarian cancer in their lifetime, yet …

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Permanent link to this article: https://inheritedcancer.net/10nls2016/

ICARE Newsletter Summer 2016

Risk of Second Cancers Among Those with PTEN Mutations

A recently published study to evaluate the risk of second cancers among PTEN mutation carriers showed that women with breast cancer had a 10-year second breast cancer cumulative risk of almost 30%. Overall, the risk of second primary cancers was almost 8-fold that of the general population, primarily due to the higher risks of cancer …

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Permanent link to this article: https://inheritedcancer.net/8nls2016/

ICARE Newsletter Summer 2016

Surveillance Among Individuals with Li-Fraumeni Syndrome (LFS): An 11 Year Follow-Up Study

Results from the original screening protocol for LFS1 were recently updated following collection of 11 years of follow-up data.2 Through this study, 89 patients with LFS were given the option of a clinical surveillance protocol consisting of a physical examination as well as frequent biochemical and imaging studies. Forty asymptomatic tumors were detected in 32% …

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Permanent link to this article: https://inheritedcancer.net/4nls2016/

ICARE Newsletter Summer 2016

Inherited Cancer Genes and Metastatic Prostate Cancer

Several prior studies have suggested that men with a BRCA mutation (primarily BRCA2) tend to develop an aggressive form of prostate cancer that is more likely to metastasize. These findings were recently extended through a new study published in the New England Journal of Medicine.1 In this study, almost 700 men with metastatic prostate cancer, …

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Permanent link to this article: https://inheritedcancer.net/5nls2016/

ICARE Newsletter Summer 2016

Community Spotlight

When I was diagnosed with cancer the first time at age 38, my sister (a breast cancer survivor since the age of 29) was positive we had a BRCA gene mutation. However, after we both had genetic testing done in 2006 the results showed we didnโ€™t. Doctors said they were surprised we did not have a mutation in one of …

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Permanent link to this article: https://inheritedcancer.net/spotlightnls2016/

ICARE Newsletter Summer 2016

An Approach to Making Risk Management Recommendations for Newer Inherited Cancer Genes

A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than โ€˜highโ€™) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …

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Permanent link to this article: https://inheritedcancer.net/3nls2016/

ICARE Newsletter Winter 2016

Improving Our Understanding of Cancer Risks Among Individuals with Li-Fraumeni Syndrome

A recent study from France included over 400 patients with Li-Fraumeni Syndrome (all of whom had an inherited TP53 gene mutation). Cancer types among children and adults differed, with the main cancer types among children being osteosarcomas, adrenocortical carcinomas, central nervous system (CNS) tumors and soft tissue sarcomas; whereas among adults, the main cancer types …

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Permanent link to this article: https://inheritedcancer.net/5nlw2016/

ICARE Newsletter Winter 2016

How Much Does Age at First Breast Cancer Affect the Risk of Contralateral Breast Cancer Risk in BRCA Carriers?

A recently published study of Dutch patients (including 200 BRCA1 carriers, 71 BRCA2 carriers, and 6023 non-carriers) showed that the contralateral breast cancer (breast cancer in the opposite breast) risks at 10 years was 21.1% for BRCA1, 10.8% for BRCA2, and 5.1% for non-carriers. Among BRCA mutation carriers, it was important to take age at …

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Permanent link to this article: https://inheritedcancer.net/3nlw2016/

ICARE Newsletter Winter 2016

Ask the Expert

The following question was addressed by Dr. Christine Laronga at the Moffitt Cancer Center: Q. As a BRCA carrier, is it reasonable for me to consider nipple-sparing mastectomy (compared to total mastectomy) to reduce my future risks of breast cancer? A. One  strategy to manage the high (60-70%) lifetime breast cancer risk among women with …

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Permanent link to this article: https://inheritedcancer.net/6nlw2016/

ICARE Newsletter Winter 2016

Community Spotlight

I was first diagnosed with breast cancer when I was 56 years old.  Because of my strong family history of breast cancer, I was referred for genetic counseling and had BRCA testing at that time. Recently, I was diagnosed with breast cancer again. When I went to see my surgeon, she advised me to have more genetic …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2016/

ICARE Newsletter Winter 2016

Potential Use of PARP-Inhibitors Among Men with Prostate Cancer Who Carry a Mutation in BRCA or Other DNA-Repair Gene<