Posts associated with "Genetic Testing"

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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 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

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

Learning You Have a Mutation in an Inherited Cancer Gene: What’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

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 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 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 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 𝘽𝙍𝘾𝘼1 or 𝘽𝙍𝘾𝘼2. 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 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

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

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 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 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

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

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 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

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 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. ⁣⁣ ⁣⁣ 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 July 2020

Racial Inequalities in Genetics

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 participants (young women with breast …

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

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) – 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 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 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 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 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

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 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) ≤age 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 ≤age 50 from 2009 to 2012 …

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

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

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 December 2019

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

                    The American College of Medical Genetics and Genomics (ACMG) put forth a Points-to-Consider document: “Is there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?” 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 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 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 testing…when 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

Male Breast Cancer Risk

Did you know? Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer. He states, “we used to think this was only an issue for women, but this is male or female.” According to CBS news, “he 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 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 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 ≤50 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/