Familial Breast Cancer

Hereditary Breast and Ovarian Cancer Syndrome Testing Criteria

• 1.

  A known mutation in a cancer susceptibility gene in the family, such as BRCA1 or BRCA2

• 2.

  An individual with breast cancer meeting one of the following criteria:

  • a.

    Diagnosed ≤ 45 years of age

  • b.

    Diagnosed ≤ 50 years of age with one of the following additional criteria: (i) an additional breast cancer primary, (ii) ≥1 close blood relative with breast cancer at any age, (iii) ≥1 close blood relative with pancreatic cancer, (iv) ≥1 close blood relative with prostate cancer (Gleason score ≥ 7), (v) unknown or limited family history

  • c.

    Diagnosed with triple-negative (i.e., estrogen receptor– and progesterone receptor–negative and HER2 unamplified) breast cancer diagnosed ≤ 60 years of age

  • d.

    Diagnosed at any age with breast cancer with the following additional criteria, (i) ≥2 close blood relatives with breast, pancreatic or prostate cancer, (ii) ≥1 blood relative with breast cancer diagnosed ≤ 50 years of age, (iii) ≥1 blood relative with ovarian cancer, (iv) a close male relative with breast cancer, (v) of Ashkenazi Jewish descent

• 3.

  Personal history of ovarian cancer

• 4.

  Male breast cancer

• 5.

  Family history of a first- or second-degree blood relative who meets the previous criteria

• 6.

  Family history of a third-degree blood relative who has breast or ovarian cancer and has ≥2 close blood relatives with breast or ovarian cancer