BRCA Mutations & Family Cancer History: What to Know
Understanding your family cancer history – and how it impacts your own risk for cancer – is crucial for anyone looking to be proactive in managing their health. This is especially important for people of Ashkenazi Jewish ancestry who have an increased risk for carrying specific genetic variants that increase cancer risk. This article will guide you through the essentials of BRCA mutations, how they impact your cancer risk, and what steps you can take to protect yourself and your loved ones.
The most common of these variants are in the BRCA1 and BRCA2 genes. Mutations in these genes are linked to Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Both men and women can be affected by HBOC, especially if there is a family history of early-onset breast cancer, ovarian cancer, pancreatic cancer, or aggressive prostate cancer.1
In the general population, approximately 1 in 400 individuals carry a mutation in either the BRCA1 or BRCA2 gene. However, this rate is significantly higher in the Ashkenazi Jewish population, where about 1 in 40 individuals carry such a mutation.2
Historically, guidelines have not endorsed genetic testing for unaffected individuals without a family history of cancer – even if they have Ashkenazi Jewish ancestry. However, research in this area is ongoing and guidelines from the National Comprehensive Cancer Network®(NCCN), a network of leading cancer centers across the United States, are evolving. Keep reading to learn how.
How Common are BRCA mutations Among People with Ashkenazi Jewish Ancestry Who Don’t Have a Family History of Cancer?
This question isn’t entirely settled by current research. The BRCA Founder Outreach (BFOR) study, launched in 2017, is designed to help answer this and other important questions about how to integrate genetic testing into our medical system.3 The primary completion date for the BFOR study was in May 2024, so we’ll likely start to see findings from the project in 2025.
The latest guidelines published by the NCCN suggests that testing be considered in individuals with Ashkenazi Jewish ancestry – defined as having at least 1 grandparent of Ashkenazi Jewish ancestry – regardless of personal or family history of cancer.4
Testing may not be right for everyone, but if you have Ashkenazi Jewish ancestry – with or without a family history of cancer – you should discuss your concerns with your doctor to learn about your options. Fortunately, Sharsheret has many resources that can guide and support you every step of the way.
How Common are BRCA Mutations in non-Ashkenazi Jewish People Who Don’t Have a Family History of Cancer?
Research shows that about half of BRCA carriers do not have a typical family cancer history that would alert them to their increased risk of cancer.5
A 2018 paper published in the Journal of the American Medical Association (JAMA) examined if a population-based genetic testing program could better identify BRCA carriers. The study enrolled 50,726 people who all underwent genetic sequencing. A BRCA mutation was found in .5% of those tested. About half of the people identified as having a BRCA mutation would have been missed by traditional screening guidelines that focus on personal or family history.6
This study adds to a growing body of research demonstrating that current strategies used to identify BRCA mutation carriers are not sufficient and new approaches are needed to better identify potential high-risk individuals.
Why Does This Matter?
It can be frustrating when great questions don’t have great answers – particularly when it comes to your health and the health and wellbeing of your family. In many ways, we are still in the infancy of our understanding of the human genome and how it can be harnessed to improve our health. Researchers across the globe are working every day to answer these and many more questions.
Remember, it’s your body and your health. Don’t be afraid to ask questions, seek support, and get the information you need. For additional support, please contact a member of our Sharsheret support team online or at 866.474.2774.
Sharsheret Resources:
- Learn more about BRCA mutations
- Learn more about Genetic Testing and Counseling
- Speak with our Clinical Team
- Connect with a Peer Supporter
Information provided by Sharsheret is not a substitute for medical advice or treatment and should not be used to diagnose or treat a health problem. Always seek the advice of your physician or qualified health provider.
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