Genes with inherited mutations linked to breast cancer
Multi-gene panel tests look for inherited mutations in many genes at the same time. These tests look for genes that are less common and less information may be known about them. The list below includes some of the more common genes linked to breast cancer. Some tests may include additional genes not listed below. A genetics expert can make sure that the right test is ordered based on your personal situation and family history. They will also make sure that your test results are interpreted correctly.
Genes linked to breast cancer in women
Mutations in the following genes have been linked to increased risk for breast cancer in women.
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Mutations in the following genes may also be linked to increased breast cancer risk. More research is needed to confirm a link to breast cancer and develop risk-management guidelines.
Genes linked to breast cancer in men
Mutations in the following genes have been linked to breast cancer risk in men.
Some inherited mutations have been linked to certain types of breast cancer.
- People with inherited mutations are more likely to develop than any other subtype of breast cancer.
- People with mutations are more likely to develop lobular carcinoma than ductal carcinoma.
Get Support
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
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
- at any age
- Two separate breast cancer diagnoses
- Eastern European Jewish ancestry and breast cancer at any age
- breast cancer
- Testing of your tumor shows a mutation in a gene that is associated with
- 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
- Male breast cancer, ovarian cancer, pancreatic cancer, or cancer at any age
- Two separate cancer diagnoses
- cancer at age 55 or younger or 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.
updated: 11/22/2021
Paying For Care
Insurance coverage for genetic counseling and testing
Most health plans cover genetic counseling and testing for inherited gene mutations linked to cancer in people who meet the national guidelines. The cost of testing and your out-of-pocket charges may vary based on several factors.
People who are denied coverage for genetic testing can file an appeal (FORCE has sample appeal letters). Your healthcare provider can work with your insurance company and help you file an appeal if needed. Low cost testing may be available for $250 or less. Learn more about coverage for genetic counseling and testing here.
If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.
testing under the Affordable Care Act
Under the Affordable Care Act (ACA), insurance companies must pay for both genetic counseling and testing with no out-of-pocket costs for women who meet certain criteria. The ACA regulations are limited to testing for and only and do not cover genetic counseling or testing in all situations. You can learn more about testing under the ACA here.
Medicare and Medicaid coverage of genetic testing
Genetic counseling and testing is typically covered by Medicare for people already diagnosed with cancer who are in treatment or for whom test results may affect their care. Most state Medicaid programs cover genetic testing for and mutations for people who meet requirements, which vary by state. You can read more about Medicare and Medicaid coverage of genetic testing here.
Financial assistance or low cost genetic testing
JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify .
- Ambry Billing and Insurance
- Color for All (Color's Family Testing Program
- Invitae Patient Assistance Program
- Quest Financial Assistance Program
- Natera Compassionate Care Program
- Myriad Cares
- Sema4 Financial Assistance
updated: 03/16/2023
Open Clinical Trials
The following are studies enrolling people with early breast cancer.
- NCT04584255: Treating BRCA, or PALB2-Associated Breast Cancer with a () and (Dostarlimab). This research study involves pre-operative therapy that is specifically targeted for breast cancer in individuals with or mutations.
- NCT04915755: Screening for Cancer in the Blood after Treatment for TNBC and/or a Mutation; Followed by Study Comparing with for People with Cancer found in their Blood (ZEST). ZEST has two parts, a screening portion that will look for evidence of cancer cell in the bloodstream, and a treatment portion where people who test positive for cancer cell in their bloodstream may receive a or a .
- NCT04481113: Abemaciclib and Before Surgery for the Treatment of Hormone Receptor Positive Negative Breast Cancer. This phase I trial tests the side effects and best dose of abemaciclib and in treating patients with breast cancer that is positive for estrogen or progesterone receptors (hormone receptor positive [HR+]) and negative.
A number of other clinical trials for patients with breast cancer can be found here.
updated: 02/08/2023
Open Clinical Trials
The following are studies looking at PARP inhibitors as treatment for advanced breast cancer:
- NCT05169437: () in patients with inherited or tumor mutations in advanced (PAVO). PAVO is a Phase II study investigating if the study drug, a called , is safe and effective for certain people who have been diagnosed with an advanced solid tumor with either an inherited or tumor mutation.
- NCT03344965: Olaparib Expanded - Treating Breast Cancer in People without gBRCA Mutations. This study is looking at whether olaparib is also effective for treating breast cancer in people who do not have an inherited mutation. The study is enrolling people with an inherited mutation in or an acquired (tumor) mutation in or .
- NCT04039230: Study to Evaluate Sacituzumab Govitecan in Combination With in Patients With Breast Cancer. This studies the effect of Antibody-Drug Conjugate Sacituzumab Govitecan in Combination with the PARP Inhibitor in Patients with TNBC.
- NCT03990896: for People with Breast Cancer Who Have Acquired (Somatic) Mutations. This is a study for patients with breast cancer without a known mutation in or , who learn they have a or acquired (tumor) mutation, found through .
- NCT04550494: Treating Solid Tumors with an Inherited or Acquired Gene Mutation Using the Talazoparib. This study is looking whether the drug (also known as ) is safe and effective for treating people with advanced breast, gastric, ovarian, pancreatic, or other with an inherited mutation or an acquired mutation in certain repair genes, such as , , , , and others.
- NCT05252390: NUV-868 Alone and in Combination With PARP Inhibitors in Patients With Advanced . This study will test how safe and effective the experimental drug NUV-868 is by itself and in combination with a in people with advanced .
A number of other clinical trials for treating patients with breast cancer can be found here.
updated: 02/08/2023