Study: Is breast cancer risk increased in women who test negative for the BRCA mutation in their family?
Contents
At a glance | In-depth |
Findings | Limitations |
Questions for your doctor | Resources |
STUDY AT A GLANCE
This study is about:
Whether women from mutation-positive families who test negative for their familial BRCA mutation are at higher risk of breast cancer than women in the general population.
Why is this study important?
If women who test negative for the BRCA mutation in their families are at higher risk than women in the general population, they may require different screening or prevention.
Study findings:
- Women who tested negative for their familial mutation were almost 5 times more likely to develop breast cancer than expected for an average-risk woman of the same age.
Limitations:
Women in this study who tested negative for BRCA may have been screened much more than women in the general population. Increased or could have resulted in more cancers being caught. Additionally, we have not identified and cannot always test for every gene that can affect cancer risk within families—abnormalities in other genes may influence risk in families with BRCA mutations. This study only looked at whether the women carried BRCA mutations; it did not consider whether they might have carried other genetic mutations that raise cancer risk. This is important, because if the BRCA-negative women who developed breast cancer carried mutations in other genes, their cancers could be attributed to those other mutations. Finally, this study was conducted through a cancer genetics clinic, a type of clinic that often sees families with very high cancer rates, which may have biased the results
What does this mean for me?
More research needs to be done to understand if women who do not carry the BRCA mutation found in their family are still at higher risk of breast cancer than women in the general population. Even if you don’t test positive for your family’s mutation, having a who has had breast cancer raises your risk for developing the disease compared to women in the general population. Patients from high-risk families should speak with a genetics expert before and after genetic testing to understand their risk for cancer and determine a screening program that is appropriate for them.
Posted 4/19/16
References
Evans GR, Ingham SL, Buchan I, et al. “Increased Rate of Phenocopies in All Age Groups in BRCA1/BRCA2 Mutation Kindred, but Increased Breast Cancer Risk Is Confined to BRCA2 Mutation Carriers.” Cancer Epidemiology, Biomarkers & Prevention. 2013 December; 22(12): 2269-2276.
Kurian AW, Gong GD, John EM, et al. “Breast cancer risk for noncarriers of family-specific and BRCA2 mutations: findings from the Breast Cancer Family Registry.” Journal of Clinical Oncology. 2011; 29:4505-4509.
This article is relevant for:
Women from a family with a known BRCA mutation who tested negative for the mutation in the family
Be part of XRAY:
NCCN guidelines recommend genetic counseling and testing for people without cancer who have the following family history:
- A relative who has tested positive for an in a gene that increases cancer risk.
- One or more first- or second-degree relatives with breast cancer and any of the following:
- diagnosed at age 45 or younger
- two separate breast cancers, with the first diagnosis at age 50 or younger
- male breast cancer
- One or more first- or second-degree relatives with:
- colorectal cancer before age 50
- endometrial cancer before age 50
- ovarian, or primary peritoneal cancer
- rare or childhood cancers
- One or more first-degree relatives with:
- or high-grade cancer
- pancreatic cancer
- Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:
- breast cancer
- pancreatic cancer
- prostate cancer
- melanoma
- sarcoma
- adrenal cancer
- brain tumors
- leukemia
- endometrial cancer
- thyroid cancer
- kidney cancer
- diffuse gastric cancer
- colon cancer
Updated: 12/04/2021
- I do not carry my family’s BRCA mutation. What type of cancer screening should I have?
- I developed breast cancer even though I do not carry my family’s BRCA mutation. What is my daughter’s risk?
- Should I have additional genetic testing?
- Can you refer me to a genetic counselor?
- What are risk factors for breast cancer?
- How can I reduce my breast cancer risk?
The following clinical trials include genetic counseling and testing.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT05562778: Chatbot to maximize genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
- NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
- NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
Updated: 02/29/2024
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
Updated: 08/06/2022
The following resources can help you locate a genetics expert near you or via telehealth.
Finding genetics experts
- The National Society of Genetic Counselors website has a search tool for finding a genetic counselor by specialty and location or via telehealth.
- InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
- Gene-Screen is a third-party genetic counseling group that can help educate, support and order testing for patients and their families.
- JScreen is a national program from Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
- Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone.
- The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
Related experts
Genetics clinics
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline (866-288-RISK, ext. 704) will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.
Updated: 07/21/2023
Who covered this study?
Medical News Today
BRCA-negative results may not reduce cancer risk
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Huffington Post
Why women who test negative for BRCA mutation may still face a higher breast cancer risk
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Fox News
Negative BRCA gene test doesn’t always mean lower breast cancer risk
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