What are the NCCN guidelines on genetic risk assessment for ovarian cancer?

Updated: Aug 10, 2020
  • Author: Andrew E Green, MD; Chief Editor: Yukio Sonoda, MD  more...
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Answer

The NCCN provides specific criteria for genetic counseling and testing of BRCA, as well as additional genetic mutations associated with ovarian cancer risk: CDH1STK11/LKB1, and Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]) genes. Separate criteria for genetic evaluation is given for individuals affected with breast or ovarian cancer and unaffected individuals with a family history suggestive of genetic risk. [125]

The criteria for affected individuals include having at least one of the following risk factors:

  • Known genetic mutation within the family or from a population at increased risk
  • Breast cancer before age 50
  • Triple negative (estrogen receptor, progesterone receptor, HER2-) breast cancer
  • Two primary breast cancer tumors
  • Breast cancer and a close relative with breast cancer before age 50, or ovarian cancer at any age, or two or more close relatives with breast cancer or pancreatic cancer at any age
  • A family member with a combination of breast cancer and either pancreatic cancer, prostate cancer, sarcoma, adrenocortical carcinoma, brain tumors, endometrial cancer, leukemia/lymphoma, thyroid cancer, hamartomatous polyps of the GI tract, or diffuse gastric cancer
  • Ovarian cancer

The criteria for unaffected individuals include a family history of at least one of the following:

  • Known genetic mutation within the family or from a population at increased risk
  • One individual with two or more primary breast cancer tumors
  • Two or more individuals on the same side of the family with breast cancer
  • Ovarian cancer
  • First- or second-degree relative with breast cancer before age 45
  • A family member with a combination of breast cancer and either pancreatic cancer, prostate cancer, sarcoma, adrenocortical carcinoma, brain tumors, endometrial cancer, leukemia/lymphoma, thyroid cancer, hamartomatous polyps of the GI tract, or diffuse gastric cancer
  • Male breast cancer

Women who meet the assessment criteria should receive genetic counseling, with further BRCA testing if warranted. Multi-gene testing may be considered in women who have tested negative (indeterminate) for a single syndrome, but whose personal or family history remains suggestive of an inherited susceptibility.


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