Genetic testing for women with breast cancer

Genetic testing for women with breast cancer

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:

breast cancer of any type (including ductal carcinoma in situ or DCIS) diagnosed before age 50
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
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.

  • BRCA1
  • BRCA2
  • CHEK2
  • PALB2
  • ATM
  • BARD1
  • CDH1
  • NBN
  • PTEN
  • STK11
  • TP53

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.