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Who Should Consider Testing?

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Genetic testing for women with breast cancer

Women who have been diagnosed with certain types of breast cancer may benefit from seeing a genetics expert and having genetic testing to see if they have an inherited mutation that caused their cancer.

Signs of a genetic mutation in women who have been diagnosed with breast cancer

Women with breast cancer and any of the following should consult with an expert about genetic testing:

  • anyone with a blood relative with a known inherited mutation in a gene associated with cancer risk
  • breast cancer of any type (including ductal carcinoma in situ or DCIS) diagnosed at or before age 45
  • breast cancer diagnosed before age 50 in women with:
    • unknown or limited family history
    • a second breast cancer diagnosis
    • one or more close relatives with breast, ovarian, pancreatic or high-grade prostate cancer  
  • breast cancer in both breasts or a second breast cancer in the same breast
  • triple-negative (ER-/PR-/Her2-) breast cancer before age 60
  • Ashkenazi (Eastern European) Jewish ethnicity
  • relatives with breast, ovarian, pancreatic, prostate or melanoma cancer
  • metastatic breast cancer in women who need the information to guide treatment
  • a tumor biomarker test that suggests an inherited mutation

Breast cancer survivors who have any of the above factors and had a negative genetic test before 2014 should speak with a genetic counselor to see if additional testing is right for them. Genetic testing has improved since then and new tests can find mutations that were previously missed by older tests. 

Benefits of genetic testing for women with breast cancer

Genetic test results may provide you and your family with additional health information and help you make medical decisions.  

  • for people with metastatic breast cancer, genetic testing can determine if you may benefit from a drug called Lynparza, which is FDA approved for treating advanced breast cancer in people with a BRCA mutation
  • test results may affect cancer treatment decisions such as choice of surgery or chemotherapy
  • test results may affect eligibility for certain clinical trials and research studies
  • results can help women understand their risk for additional cancers to guide medical decisions about risk management
  • test results can help relatives understand their risk for cancer and take actions to stay healthy.

Gene mutations linked to hereditary breast cancer

The following gene mutations have been linked with an increased risk for breast cancer. Each gene has slightly different cancer risks and recommendations. You should speak with a genetics expert before and after genetic testing to understand which test to order and what your results mean for you and your family. 

Additional support and resources

If you are a breast cancer survivor making decisions about genetic testing, you may want additional guidance or support. FORCE's Peer Navigation Program provides expert reviewed resources and 1:1 personalized peer support by specially trained volunteers who have experienced the very challenges you face. 

Updated 02/26/2020

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