Does expanded genetic testing benefit Jewish women diagnosed with breast cancer?
https://www.facingourrisk.org/XRAY/expanded-testing-for-jewish-women
Full article: https://jamanetwork.com/journals/jamaoncology/fullarticle/2644652
BRCA1 and BRCA2 mutations are common in people of Eastern European (Ashkenazi) Jewish descent. About 2% of all Ashkenazi Jewish people will test positive for one of three common mutations in these genes. Genetic testing for Jewish people sometimes focuses on only the three most common mutations. For Jewish women with breast cancer, little is known about their chance of carrying a different hereditary mutation that may increase risk. This study looked at expanded genetic testing in Jewish women diagnosed with breast cancer to learn how often they carried mutations other than the three most common BRCA gene mutations found in Ashkenazi Jewish people. (09/13/17)
Expert Guidelines
The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:
- You have a blood relative who has tested positive for an inherited mutation
- You have any of the following:
- Breast cancer at age 50 or younger
- Male breast cancer at any age
- Ovarian cancer at any age
- Triple-negative breast cancer at any age
- Two separate breast cancer diagnoses
- Eastern European Jewish ancestry and breast cancer at any age
- Metastatic breast cancer
- Testing of your tumor shows a mutation in a gene that is associated with hereditary cancer
- HER2-negative breast cancer and high risk for recurrence
- Lobular breast cancer and a family history of diffuse gastric cancer
OR
- You have one or more close family members who have had:
- Young-onset or rare cancers
- Breast cancer at age 50 or younger
- Triple-negative breast cancer
- Male breast cancer, ovarian cancer, pancreatic cancer, or metastatic prostate cancer at any age
- Two separate cancer diagnoses
- Prostate cancer at age 55 or younger or metastatic prostate cancer
The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes.
If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert.
Questions To Ask Your Health Care Provider
- I previously tested negative for the BRCA founder mutations. Should I be tested for other BRCA mutations?
- Should I have panel testing for mutations in other, non-BRCA breast cancer genes?
- If I test positive for a mutation in other breast cancer genes, what does that mean for me and my family as far as screening, cancer prevention, and treatment choices?
- My insurance will not pay for genetic testing. Are there other options for me to get testing?
Open Clinical Trials
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Prospective Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT04245176: Genetic Testing for All Breast Cancer Patients (GET FACTS). This study looks at the impact of a novel genetic counseling method on surgical decisions in people with newly diagnosed breast cancer. This study involves genetic counseling about contralateral breast cancer risk.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- Enhancing Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer. This study will test how well educational materials increase the use of knowledge about hereditary cancer risk.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of HBOC.
Other genetic counseling or testing studies may be found here.
About FORCE
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.