Gene: PALB2

ICARE Newsletter Fall 2023

Recommendations for Inherited Ovarian Cancer Genes: United Kingdom (UK)

Through consensus, management recommendations were developed in the UK for females with pathogenic variants inthe following inherited ovarian cancer genes: RAD51C, RAD51D, BRIP1, and PALB2. Hanson, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032. Social media post September 26th, 2023.Available at https://tinyurl.com/post9262023.

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-recommendations-for-inherited-ovarian-cancer-genes-united-kingdom-uk/

ICARE Newsletter Fall 2023

National Comprehensive Cancer Network (NCCN) Guidelines Updates

Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic CancerReleased August 28th, 2023 (V1.2024) › Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)› Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/

ICARE Social Media Post October 2023

What Are Established Cancer Genes?

There are many different inherited breast cancer genes, and different genes lead to different levels of breast cancer risk:

Permanent link to this article: https://inheritedcancer.net/post100423/

ICARE Social Media Post August 2023

UK Recommendations for: Inherited Ovarian Cancer Genes

Through consensus, management recommendations were developed in the UK for females with pathogenic variants in the following inherited ovarian cancer genes: Learn more at the link in bio! Reference: Hanson H, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032.

Permanent link to this article: https://inheritedcancer.net/post81823/

ICARE Social Media Post August 2023

New Article – Cancer Risk Management

A recent study, which 𝗶𝗻𝗰𝗹𝘂𝗱𝗲𝗱 𝗜𝗖𝗔𝗥𝗘 𝗽𝗮𝗿𝘁𝗶𝗰𝗶𝗽𝗮𝗻𝘁𝘀, found that getting care according to guidelines depends on: Therefore, we need ways to improve knowledge among healthcare providers and trust in care among patients! Use this link to learn more: https://tinyurl.com/n26m4zys Reference: Dean, et al. Genet Med. 2023;100945. PMID: 37515473.

Permanent link to this article: https://inheritedcancer.net/post80723/

ICARE Social Media Post July 2023

Inherited Cancer Genes in Children: BRCA1/2, PALB2, ATM, CHEK2 , Lynch Genes

Recent study findings suggest that BRCA1/2, PALB2, ATM, CHEK2, and the Lynch Syndrome genes might confer reduced penetrance cancer risk among children. However, there are no adjustments to management or testing recommendations based on the level of risk (i.e., normally do not test children for conditions that primarily increase the risk of cancer in adulthood). …

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Permanent link to this article: https://inheritedcancer.net/post72123/


ICARE Social Media Post April 2023

New study for BRCA1, BRCA2 , or PALB2 carriers with stage 1-3 breast cancer

An open study for BRCA1, BRCA2, or PALB2 carriers with stage 1-3 breast cancer is currently recruiting! Learn more about the study by visiting https://vanderbilt.trialstoday.org/trial/NCT04584255

Permanent link to this article: https://inheritedcancer.net/post42123/

ICARE Newsletter Spring 2023
Breast Cancer Treatment Updates

Findings from a Phase II study to evaluate the use of talazoparib (a PARP inhibitor) in individuals with advanced PALB2-mutation breast cancer showed that it appeared effective in certain patients and appeared safe (with similar adverse events as those previously reported with this drug).1 There are several Phase II trials to evaluate PARP inhibitors in …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-treatment-updates/

ICARE Newsletter Spring 2023

Inherited Breast Cancer: Contralateral Breast Cancer Risks

While higher risks for contralateral breast cancer (CBC) have been known for BRCA1 and BRCA2, a newly published study demonstrated that the risk of CBC is also higher for female PALB2 and CHEK2 carriers; however, no elevated risks were found for ATM carriers (Table 1).1 This information is important to study, as it may be …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-inherited-breast-cancer-contralateral-breast-cancer-risks/

ICARE Social Media Post March 2023

Treatment for PALB2-associated breast cancer with Talazoparib

According to a recent Phase II study, Talazoparib may benefit patients with PALB2-associated breast cancer. Findings showed that Talazoparib appeared effective and safe in certain patients with advanced disease. Read the full article at this link: https://www.nature.com/articles/s43018-022-00439-1 Reference: Gruber et al. Nat Cancer. 2022;3(10):1181-1191. PMID: 36253484.

Permanent link to this article: https://inheritedcancer.net/post32723/

ICARE Social Media Post March 2023

BGREAT December 2022 Newsletter

Check out the latest edition of our B-GREAT newsletter for updates about inherited cancers in the context of racial inequalities in healthcare. You can read the newsletter by visiting 👇https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-December-2022-Newsletter.pdf Please feel free to share with family members, friends, and/or your healthcare providers.

Permanent link to this article: https://inheritedcancer.net/post30623/

ICARE Newsletter Spring 2022 

 Ask the Expert 

The below question was addressed by ICARE Founder, Dr. Tuya Pal, and her oncology colleague, Dr. Sonya Reid. Dr. Pal is a Professor of Genetic Medicine, Ingram Professor of Cancer Research, and the Associate Director for Cancer Health Disparities at VanderbiltIngram Cancer Center. Dr. Reid is an Assistant Professor of Hematology/Oncology at Vanderbilt University Medical …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-ask-the-expert/

ICARE Newsletter Spring 2022 

 Polygenic Risk Scores and Inherited Breast Cancer Genes: BRCA1/2, PALB2, CHEK2, and ATM  

Breast MRIs are advised in women with >20% lifetime risk of breast cancer. A new study showed that breast cancer risks in BRCA1, BRCA2 and PALB2 carriers remained higher than 20%, regardless of whether polygenic risk scores (PRS) were done, suggesting this is of limited help in refining screening. In contrast, PRS downgraded breast cancer …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-polygenic-risk-scores-and-inherited-breast-cancer-genes-brca1-2-palb2-chek2-and-atm/

ICARE Newsletter Fall 2022 

 Ask the Expert 

The below question was addressed by Dr. Kamran Idrees, Chief of the Division of Surgical Oncology & Endocrine Surgery, Associate Professor of Surgery, Ingram Associate Professor of Cancer Research, and Director of Pancreatic and Gastro Intestinal Surgical Oncology at Vanderbilt-Ingram Cancer Center. Dr. Idrees’ research has focused on colorectal cancer, liver metastases, and pancreatic cancer …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-ask-the-expert/

ICARE Newsletter Fall 2022 

 Which Genes Are Confirmed as ‘Inherited Breast Cancer Genes’? 

There were two large studies published early last year that evaluated which genes raise risks for breast cancer, including breast cancer patients from many centers worldwide, representing the largest available datasets to look at this question. These efforts were led by the worldwide Breast Cancer Association Consortium (BCAC)1 and the United States-based CARRIERS consortium. The …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-which-genes-are-confirmed-as-inherited-breast-cancer-genes/

ICARE Newsletter Fall 2022 

National Comprehensive Cancer Network (NCCN) Guidelines Updates 

Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic – Released September 7th, 2022› Testing eligibility based on personal history of any type of breast cancer in females was updated from age ≤45 to ≤50 making more females with breast cancer eligible for testing …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-national-comprehensive-cancer-network-nccn-guidelines-updates/

ICARE Newsletter Fall 2021 

Ask the Expert 

 

In each newsletter, we give participants the opportunity to have their questions addressed by experts in thefield. This question was addressed by Kerry Schaffer, MD, medical oncologist at Vanderbilt University MedicalCenter with a focus on urological cancers. Q. Is there enough information to consider using PARP inhibitors to treat inherited forms ofprostate cancer? A. Over …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-ask-the-expert/

ICARE Newsletter Fall 2021 
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Polygenic Risk Scores and Breast Cancer Risks: BRCA1/2, PALB2, CHEK2, ATM , and beyond!

A recent study found use of a polygenic risk score (PRS) modified the estimated riskof breast cancer among both carriers and non-carriers of inherited breast cancerpredisposition genes. Taking PRS into account, more than 95% of BRCA1, BRCA2,and PALB2 carriers had greater than 20% lifetime risks of breast cancer. In contrast,among ATM and CHEK2 carriers without …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-polygenic-risk-scores-and-breast-cancer-risks-brca1-2-palb2-chek2-atm-and-beyond/

ICARE Social Media Post February 2023

Risk for second breast cancer in premenopausal female BRCA1, BRCA2, PALB2 and CHEK2 carriers

Did you know female BRCA1, BRCA2, CHEK2, or PALB2 carriers have much higher risks for contralateral breast cancer?This information is important to guide cancer screening and risk reduction strategies. Use the link in bio to learn more!

Permanent link to this article: https://inheritedcancer.net/post40123/

Newsletter Fall 2021

Inherited Cancer Treatment Updates

Early-stage, high-risk breast cancer in BRCA carriers: Results of the highly awaited phase 3 OlympiA trial showed promising results for EARLY STAGE (i.e., localized Stage 2-3) high-risk breast cancer patients with a BRCA mutation who were treated with a PARP inhibitor (olaparib) in the adjuvant setting (i.e., AFTER surgery).1 Early-stage breast cancer in this trial …

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Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-inherited-cancer-treatment-updates/

Newsletter Fall 2021

Breast Cancer Risks Remain High in PALB2 & BRCA

A new study found that lifetime breast cancer risk is 15% or more in female BRCA1, BRCA2, and PALB2 carriers over age 65. This level of risk warrants consideration for continuing breast MRI.1 These results are similar to those of a study that included ICARE participants,2 which reported the risk of developing breast cancer remains …

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Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-breast-cancer-risks-remain-high-in-palb2-brca/

Newsletter Fall 2021

Prostate Cancer and PALB2

A new Polish study based on two specific founder mutations in PALB2 reported that mutations in this gene may predispose to an aggressive, lethal form of prostate cancer.1 The investigators studied PALB2 prostate cancer risks, characteristics, and outcomes in almost 5,500 men with prostate cancer and compared them to over 8,000 cancer-free adults from Poland. …

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Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-prostate-cancer-and-palb2/

Newsletter Fall 2021

PALB2 : Increasingly Recognized as the Third Most Important Inherited Breast Cancer Gene

In May 2021, a clinical practice resource was released by the American College of Medical Genetics and Genomics (ACMG) from a global team of cancer genetics specialists (see figure) to help guide the care of PALB2 carriers.1 PALB2 is considered the third most important breast cancer risk gene, after BRCA1 and BRCA2, with PALB2 carriers …

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Permanent link to this article: https://inheritedcancer.net/div-classboxedspan-stylecolor-whiteh6newsletter-fall-2021-h6-span-divbrcenterh4span-stylecolor-56b0e4-ipalb2-i-increas/

ICARE Social Media Post December 2022

Bilateral Mastectomy in BRCA1/2, PALB2, ATM, & CHEK2 Carriers

A recent study including data from ICARE participants found similar rates of bilateral mastectomy across high (BRCA1, BRCA2, PALB2) and moderate (ATM, CHEK2) penetrance genes. The high rates of bilateral mastectomies seen in those with moderate penetrance genes is concerning for overtreatment. Use the link to learn more: https://jamanetwork.com/journals/jamaoncology/fullarticle/2797978?guestAccessKey=fe9a3a20-8623-4feb-a0c5-315ad43a8fcb&utm_source=jps&utm_medium=email&utm_campaign=author_alert-jamanetwork&utm_content=author-author_engagement&utm_term=1m Reference: Reid et al. Receipt of …

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Permanent link to this article: https://inheritedcancer.net/post120822/

ICARE Social Media Post July 2022

Pancreatic Cancer Screening

A recent study found that earlier diagnosis improved survival in people at high risk of pancreatic cancer.High risk was defined based on:family history and/orinherited gene mutation (BRCA1, BRCA2, CDKN2A, Lynch Syndrome genes, PALB2, ATM, and STK11)Read the article at the link: https://ascopost.com/news/june-2022/outcomes-of-pancreas-surveillance-in-the-caps5-study-and-total-caps-cohort/Reference: Dbouk, et al. J Clin Oncol. 2022 Jun 15:JCO2200298. doi: 10.1200/JCO.22.00298. PMID: 35704792.

Permanent link to this article: https://inheritedcancer.net/post72622/

ICARE Social Media Post May 2022

Breast Cancer Genes in Women of African Ancestry

A recent study in women of African ancestry confirmed genes previously identified to have associations with breast cancer risk (BRCA1, BRCA2, PALB2, ATM, TP53, NF1, and CHEK2) and provided new evidence of breast cancer risk for RAD51C and RAD51D, which was identified previously in European ancestry populations.Check out the full article at 👇https://pubmed.ncbi.nlm.nih.gov/35396981/Reference: Díaz-Zabala, et …

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Permanent link to this article: https://inheritedcancer.net/post51722/

ICARE Social Media Post April 2022

Breast Cancer Mortality & MRI Screening: ATM, CHEK2, and PALB2

A new study suggests that annual breast MRI screening may reduce deaths from breast cancer by half in women with ATM, CHEK2 and PALB2 gene mutations. The data suggests starting with annual breast MRIs between the ages of 30 to 35, and adding annual mammograms starting at age 40. Read the full article to learn …

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Permanent link to this article: https://inheritedcancer.net/post40122/

ICARE Social Media Post February 2022

Polygenic Risk Scores: BRCA1, BRCA2, PALB2, CHEK2 & ATM

Permanent link to this article: https://inheritedcancer.net/post20822/

ICARE Social Media Post February 2022

Breast Cancer Characteristics Across Genes

 

A new study demonstrated that breast cancer pathology and other clinical features differ by inherited breast cancer gene. Read the full article to learn more!https://jamanetwork.com/journals/jamaoncology/fullarticle/2788577Reference: Breast Cancer Association Consortium. JAMA Oncol. 2022 Jan 27. PMID: 35084436

Permanent link to this article: https://inheritedcancer.net/post20122/

ICARE Social Media Post December 2021

Fall 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. Kerry Schaffer discusses the use of PARP inhibitors to treat inherited forms of prostate cancer.Check out Dr. Schaffer’s full response at 👇https://inheritedcancer.net/newsletters/

Permanent link to this article: https://inheritedcancer.net/post122821/

ICARE Social Media Post September 2021

USA Today Article: Fighting Cancer with Your Own Family History

Check out the full 𝘜𝘚𝘈 𝘛𝘰𝘥𝘢𝘺 article, featuring commentary from Dr. Tuya Pal (ICARE Founder), highlighting the importance of PALB2 as an inherited breast cancer gene: https://www.futureofpersonalhealth.com/breast-health/fighting-cancer-with-your-own-family-history/# Additional guidance is available through an impactful PALB2 practice resource recently published through ACMG: https://www.acmg.net/PDFLibrary/41436_2021_1151_OnlinePDF.pdf Reference: Tischkowitz, et al. Genet Med. 2021 Aug;23(8):1416-1423. PMID: 33976419

Permanent link to this article: https://inheritedcancer.net/post92221/

ICARE Social Media Post August 2021

Breast Cancer Risks: BRCA1/2 & PALB2

For more information, view the article at 👇https://ascopubs.org/doi/full/10.1200/JCO.21.00531

Permanent link to this article: https://inheritedcancer.net/post82421/

ICARE Social Media Post August 2021

Metastatic Breast Cancer Genes

For additional information, read the Journal of Clinical Oncology article at the link below 👇 https://ascopubs.org/doi/10.1200/JCO.20.01200

Permanent link to this article: https://inheritedcancer.net/post82021/

ICARE Social Media Post August 2021

New York Times PALB2 Article

A New York Times article just published focused on the importance of PALB2 as a breast cancer gene (https://www.nytimes.com/…/breast-cancer-palb2-brca.html), which referenced our recent article focused on managing PALB2 carriers sponsored by ACMG – American College of Medical Genetics and Genomics, and developed through a worldwide collaboration (including: Marc Tischkowicz, Judith Balmana, Will Foulkes, Paul James, …

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Permanent link to this article: https://inheritedcancer.net/post81921/

ICARE Social Media Post August 2021

Breast Cancer Risk Among Breast Cancer Gene Carriers Varies by Polygenic Risk Score

For more information, read the 𝘑𝘰𝘶𝘳𝘯𝘢𝘭 𝘰𝘧 𝘊𝘭𝘪𝘯𝘪𝘤𝘢𝘭 𝘖𝘯𝘤𝘰𝘭𝘰𝘨𝘺 article at the link below:https://ascopubs.org/doi/figure/10.1200/JCO.20.01992

Permanent link to this article: https://inheritedcancer.net/post81321/

ICARE Social Media Post July 2021

Advances in Pancreatic Cancer Treatment: PALB2 & BRCA1/2

For more information, view the article at the following link below: https://ascopubs.org/doi/abs/10.1200/JCO.21.00003 You may also read the ASCO post article at: https://ascopost.com/news/may-2021/maintenance-rucaparib-in-patients-with-platinum-sensitive-pancreatic-cancer-and-germline-or-somatic-brca1-brca2-or-palb2-variants/?utm_source=TAP%2DEN%2D051221%2DTrending%5FLymphoma&utm_medium=email&utm_term=49cf1c97d48c2cf8231827e3bcb15769

Permanent link to this article: https://inheritedcancer.net/post70621/

ICARE Social Media Post July 2021

PALB2 & Prostate Cancer

For more information, read the article available at: https://www.nature.com/articles/s41416-021-01410-0

Permanent link to this article: https://inheritedcancer.net/post70221/

ICARE Social Media Post June 2021

A Population-Based Study of Genes Previously Implicated in Breast Cancer

For additional information, read the article at the following link: https://www.nejm.org/doi/10.1056/NEJMoa2005936

Permanent link to this article: https://inheritedcancer.net/post62521/

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 May 2021

ACMG Gene List

The American College of Medical Genetics and Genomics (ACMG) recently released the highly anticipated recommended minimum gene list for reporting secondary findings (SF) in clinical exome and genome sequencing. ACMG SF v3.0 added 3 new cancer genes (𝘗𝘈𝘓𝘉2, 𝘔𝘈𝘟, and 𝘛𝘔𝘌𝘔127) to bring the total number of inherited cancer genes to 28. For more information …

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Permanent link to this article: https://inheritedcancer.net/post52121_2/

ICARE Social Media Post May 2021

ACMG Clinical Practice Resource on PALB2

Check out the newly released ACMG Clinical Practice Resource on 𝗣𝗔𝗟𝗕𝟮 developed through a group of worldwide experts!https://www.acmg.net/PDFLibrary/41436_2021_1151_OnlinePDF.pdf Read the ACMG press release at: https://www.acmg.net/PDFLibrary/Global%20Team%20of%20Cancer%20Genetic%20Specialists%20release%20final%20template%205%206.final.pdf

Permanent link to this article: https://inheritedcancer.net/post51121/

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

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

Three Articles: Breast Cancer Risks

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

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

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 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 𝘉𝘙𝘊𝘈, 𝘗𝘈𝘓𝘉2, 𝘊𝘏𝘌𝘒2, and 𝘈𝘛𝘔 Carriers” in 𝘗𝘢𝘵𝘪𝘦𝘯𝘵 𝘌𝘥𝘶𝘤𝘢𝘵𝘪𝘰𝘯 𝘢𝘯𝘥 𝘊𝘰𝘶𝘯𝘴𝘦𝘭𝘪𝘯𝘨 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 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 𝗳𝗿𝗲𝗲 to access and download 𝘂𝗻𝘁𝗶𝗹 𝗠𝗮𝗿𝗰𝗵 𝟱𝘁𝗵 at: https://www.sciencedirect.com/science/article/pii/S0738399120306832

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

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 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 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 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 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 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

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 Social Media Post July 2020

BRCA1/2 and Other Gene Carriers with Breast Cancer Don’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 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 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 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 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 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 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 sister’s, but being PALB2+ changed …

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

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 ‘genetic testing process’ 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 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 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 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

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 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

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 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

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 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 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 Summer 2017

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

As testing for multiple genes at the same time (“multi-gene panel testing”) 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 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 “multi-gene panel testing”), 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

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 didn’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 ‘high’) 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

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

What Is the Risk for Ovarian Cancer Among Women with Mutations in Newer Ovarian Cancer Genes?

The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively.  Another set of genes known to raise ovarian cancer risks are the mismatch …

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Permanent link to this article: https://inheritedcancer.net/2nlw2016/

ICARE Newsletter Winter 2016

More Information About the Inherited Component of Pancreatic Cancer

Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain.  To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …

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Permanent link to this article: https://inheritedcancer.net/7nlw2016/

ICARE Newsletter Summer 2015

Breast Cancer Risks and Outcomes Among Women with a PALB2 Mutation

Through a recent study of over 12,000 Polish women with breast cancer, PALB2 mutations were detected in almost 1%.  In this study, about one third of those with a PALB2 mutation had triple negative (lacking estrogen, progesterone and HER2 receptors) breast cancer and the average age at breast cancer diagnosis was 53.3 years.  Breast tumors …

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Permanent link to this article: https://inheritedcancer.net/3nls2015/

ICARE Newsletter Summer 2015

2015 NCCN Clinical Practice Guideline Update

Breast and Ovarian Management Based on Genetic Test Resultsa   Recommend Breast MRIc (>20% lifetime risk of breast cancerd) Recommend Risk-reducing salpingo-oophorectomy Discuss Option of Risk-reducing mastectomy Intervention warranted based on gene and/or risk level ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 BRCA1, BRCA2, Lynch syndromee BRCA1, BRCA2, CDH1, PTEN, TP53 Insufficient evidence …

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Permanent link to this article: https://inheritedcancer.net/1nls2015/

ICARE Newsletter Winter 2015

PALB2: A Third Important Gene for Inherited Breast Cancer

Following the publication of an important article in the New England Journal of Medicine (NEJM) in August 2014, germline PALB2 gene mutations were confirmed as the third most important gene for inherited breast cancer, following BRCA1 and BRCA2.1 PALB2 stands for “partner and localizer of BRCA2” and is located on chromosome 16. Studies suggest that PALB2 mutations …

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Permanent link to this article: https://inheritedcancer.net/1nlw2015/