The National Comprehensive Cancer Network (NCCN, v 1.2018) has recommended the following guidelines for when to refer a patient for further genetic risk evaluation for a mutation in the BRCA1 or BRCA2 genes, which cause Hereditary Breast and Ovarian Cancer syndrome (HBOC):

  • Any individual with an ovarian cancer, including fallopian tube and primary peritoneal cancers
  • Any individual with a breast cancer meeting any of the following:
    • A known mutation in the family in a gene that is known to increase the risk for cancer
    • Diagnosed at or before age 50
    • Triple negative (estrogen, progesterone, and Her2 receptor negative) at or before age 60
    • Two breast cancer primaries in a single individual, can be bilateral or two distinct primary cancers in the same breast; do not have to be diagnosed at the same time
    • Male breast cancer
    • Also has a personal history of pancreatic cancer at any age
  • Any individual with a breast cancer at any age, AND meeting one of the following family history criteria (close blood relatives include first-, second-, and third-degree relatives):
    • One or more close blood relative with breast cancer at or before the age of 50
    • One or more close blood relative with invasive ovarian, fallopian tube, or primary peritoneal cancer at any age
    • Two or more close blood relatives with breast, prostate (that is either metastatic or has a Gleason score of 7 or higher), and/or pancreatic cancer at any age
    • From a population at increased risk (Ashkenazi Jewish)
  • Any individual with metastatic prostate cancer
  • Any individual of Ashkenazi Jewish descent with breast, ovarian, or pancreatic cancer at any age
  • Any individual with a personal and/or family history of three or more of the following (especially if diagnosed at age 50 or younger and can include multiple primaries in the same individual):
    • Breast
    • Pancreatic
    • Prostate (metastatic or Gleason score of 7 or higher)
    • Melanoma
    • Sarcoma
    • Adrenocortical carcinoma
    • Brain tumors
    • Leukemia
    • Diffuse gastric
    • Colon
    • Endometrial
    • Thyroid
    • Kidney

 

FAMILY HISTORY ONLY

  • An individual with no personal history of cancer, but with a close relative with any of the following:
    • A known mutation in the family in a gene that is known to increase the risk for cancer
    • Two or more breast cancer primaries in a single individual
    • Two or more individuals with breast cancer primaries on the same side of the family, with at least one being diagnosed at or before age 50
    • Ovarian, fallopian tube, or primary peritoneal cancer
    • Male breast cancer
    • Breast cancer diagnosed at or before age 45 in a first- or second-degree relative
    • Three or more of the following (especially if diagnosed at age 50 or younger and can include multiple primaries in the same individual):
      • Breast
      • Pancreatic
      • Prostate (metastatic or Gleason score of 7 or higher)
      • Melanoma
      • Sarcoma
      • Adrenocortical carcinoma
      • Brain tumors
      • Leukemia
      • Diffuse gastric
      • Colon
      • Endometrial
      • Thyroid
      • Kidney