Genetic Testing for Hereditary Breast and Ovarian Cancer

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Genetic testing is available for hereditary breast and ovarian cancer. However, most breast and ovarian cancer is not caused by inherited mutations. Inherited gene mutations are more likely in families with a strong family history of breast cancer, especially if there is also a family history of ovarian, pancreatic, and prostate cancers.

Inherited risk

Inherited changes in the following genes can increase breast cancer risk:

  • BRCA1
  • BRCA2
  • PALB2
  • CHEK2
  • ATM
  • CDH1 (linked with hereditary diffuse gastric cancer)
  • PTEN (linked with Cowden syndrome)
  • TP53 (linked with Li-Fraumeni syndrome)

Who should be tested?

Genetic testing is typically recommended if you have:

  • strong family health history of breast and ovarian cancer
  • moderate family health history of breast and ovarian cancer and are of Ashkenazi Jewish or Eastern European ancestry
  • A personal history of breast cancer and meet certain criteria (related to age of diagnosis, triple-negative breast cancer, presence of certain other cancers or cancer in both breasts, ancestry, and family health history)
  • A personal history of ovarian, fallopian tube, or primary peritoneal cancer
  • A family history of male breast cancer, ovarian or pancreatic cancer or metastatic prostate cancer
  • A known inherited mutation in your family

Breast cancer risk assessment

There are several breast cancer risk assessment tools available that estimate your risk of developing breast cancer based on your personal or family history of breast cancer. These assessment tools help us plan the breast cancer screening that’s best for you and help guide us toward prevention measures to lower your risk.

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