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.
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.
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.
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
- 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.
The following clinical trials are open to people diagnosed with breast cancer with an inherited mutation.
Advanced of any type, including breast cancer
- NCT03565991: A Phase II Study to Evaluate the Safety and Anti-tumor Activity of Avelumab in Combination with in Patients with a or Mutation. This study is looking at the safety and effectiveness of the combination of an (known as Avelumab) and a (known as ) is for treating patients with locally advanced or who have an inherited mutation in , or .
- NCT03718091: M6620 (VX-970) in Selected Solid Tumors. This is a phase 2 study looking at M6620, a drug designed to inhibit the ATR enzyme. Inhibiting ATR may block how cancers repair their damaged . The study is specifically enrolling patients with an inherited , or . The study is also enrolling people with a mutation in any of the following genes based on tumor testing: , , or , , , CDK12, , FANCA, FANCC, FANCE, FANCF, FANCM, MRE11A, , , RAD51B, , or .
- NCT04171700: A Study to Evaluate in Patients With and With Deleterious Mutations in HRR Genes (LODESTAR). This study is evaluating the response of in patients with advanced cancers and with deleterious mutations (either inherited or found on tumor testing) in Repair (HRR) genes, including: , , , , , , , FANCA, , RAD51 or RAD51B.
- NCT03330847: Safety and Efficacy of Olaparib Combined with Agents Targeting Damage Repair Compared to Olaparib Alone. The purpose of this study is to assess the efficacy and safety of treatment with the , olaparib combined with the drug Ceralasertib compared with olaparib alone for patients with .
- NCT03911973: Gedatolisib Plus in Advanced Triple Negative or BRCA1/2 Positive, Negative Breast Cancers. This study is designed to determine efficacy of gedatolisib in combination with in advanced breast cancer that is triple negative or caused by a BRCA1/2 mutation.
- Breast Cancer Treatment in Women with Mutations. The Study is an international research study to better understand breast cancer treatment among women with a gene mutation. Participants are asked to complete online or paper study questionnaires (every two years for 10 years) and share their family history, medical, and genetics records.
- NCT03344965: A Phase 2 Study of Olaparib Monotherapy in Breast Cancer Patients with Germline or in Repair Genes (Olaparib Expanded). This study is looking at how well olaparib works in people with breast cancer and any of the following mutations (either inherited or found on tumor testing) : , ATR, , (FANCJ), , FANCA, FANCC, FANCD2, FANCE, FANCF, FANCM, MRE11A, , , , ,
- NCT02401347: Beyond (TBB) Trial. People with an inherited mutation who have triple-negative breast cancer may qualify for this study. This study is looking at how well the talazoparib works in people with the following mutations (either inherited or found on tumor testing) : , , , , , , , , , , MRE11, ATR, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, plus other HR-related genes at the discretion of the primary investigators.