Table 2

Consensus guidelines for hereditary breast-ovarian cancer

ACMG/NYS, American College of Medical Genetics and New York State Department of Health; BRCA, breast cancer mutation; NCCN, National Comprehensive Cancer Network.
NCCN

  1. Member of known BRCA1/BRCA2 kindred

  2. Personal history of breast cancer

    • Diagnosed age ⩽40 y, with or without family history

    • Diagnosed age ⩽50 y or bilateral, with ⩾1 close blood relative with breast cancer or ⩾1 close blood relative with ovarian cancer

    • Diagnosed at any age, with >2 close relatives with ovarian cancer at any age, or breast cancer, especially if ⩾1 woman is diagnosed before age 50 y or has bilateral disease

    • Close male blood relative has breast cancer

    • Personal history of ovarian cancer

    • If of Ashkenazi Jewish descent and diagnosed age ⩽50 y, no additional family history required or at any age if positive family history of breast and/or ovarian cancer

  3. Personal history of ovarian cancer

    • One or more close relatives with ovarian cancer

    • One or more close female relatives with breast cancer at age ⩽50 y or bilateral breast cancer

    • Two or more close relatives with breast cancer

    • One or more close male relatives with breast cancer

    • If of Ashkenazi Jewish descent, no additional family history is required

  4. Personal history of male breast cancer plus one or more of the following:

    • One or more close male relatives with breast cancer

    • One or more close female relatives with breast or ovarian cancer

    • If of Ashkenazi Jewish descent, no additional family history is required

  5. Family history only

    • Close family member meeting any of the above criteria.

ACMG/NYS

  1. Family member with an identified mutation

  2. Three or more affected FDRs or SDRs on the same side of the family, regardless of age at diagnosis

  3. Patient diagnosed with breast cancer at ⩽45 y

  4. One or more cases of ovarian cancer at any age and ⩾1 case of breast cancer at any age

  5. Multiple primary cancers or bilateral breast cancer in patient or family member

  6. One or more cases of male breast cancer

  7. If of Ashkenazi Jewish descent, 1 close relative with breast or ovarian cancer

Kaiser Permanente

  1. Women or men with a maternal or paternal relative who has previously been tested and found to have a clinically significant alteration in a breast cancer (BRCA) gene.

  2. Women or men with a personal and family history of breast and/or ovarian cancer in maternal or paternal relative(s) as defined by at least one of the following:

    • Women with breast cancer at⩽49 plus one or more FDR or SDR with breast cancer diagnosed at ⩽49 y

    • Women with breast cancer at any age plus:

      • – Breast cancer in ⩾2 FDRs or SDRs where any of the affected relatives is diagnosed at ⩽49 y

      • – Ovarian cancer in ⩾1 FDR or SDR

    • Women with ovarian cancer plus

      • – Breast cancer in ⩾1 FDR or SDR

      • – Ovarian cancer in ⩾1 FDR or SDR

    • Men with breast cancer plus breast and/or ovarian cancer in ⩾1 FDR or SDR

  3. Women with a personal history (but no family history) of breast and/or ovarian cancer as defined by at least one of the following:

    • Breast cancer at ⩽29 y

    • Breast cancer <40 y and of Ashkenazi Jewish descent

    • Ovarian cancer and of Ashkenazi Jewish descent

    • Breast cancer and ovarian cancer

    • Multiple primary breast cancers

  4. Women or men with a family history (but no personal history) of breast and/or ovarian cancer in maternal or paternal relatives as defined by at least one of the following:

    • Breast cancer in at least:

      • – 2 FDRs or SDRs both diagnosed at ⩽49 y and at least one of the relatives is a FDR

      • – 3 FDRs or SDRs with ⩾1 relative diagnosed at ⩽49 y

    • Ovarian cancer in ⩾2 FDRs or SDRs

    • Breast cancer in >1 FDR or SDR and ovarian cancer in ⩾1 FDR or SDR