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Genetic Testing for Hereditary Cancer

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Genetic counseling and testing guidelines for breast, ovarian, pancreatic and prostate cancers

The National Comprehensive Cancer Network (NCCN) is a consortium of cancer centers with experts in management of hereditary cancer who meet annually to make recommendations on cancer care.  The NCCN updates their guidelines for genetic counseling and testing annually based on the latest research. In general, most doctors consider these guidelines the standard of care.

NCCN guidelines recommend referral to a genetics expert for evaluation of cancer patients and people with a family history of cancer if they meet any of the criteria below. 

  • Anyone with a blood relative with a known mutation in a gene that increases cancer risk
  • Anyone with cancer who had a tumor test result that showed a mutation in a gene that increases cancer risk
  • Anyone diagnosed with any of the following at any age:
    • Ovarian, fallopian tube, or primary peritoneal cancer
    • Pancreatic cancer
    • Metastatic prostate cancer
    • Breast or high-grade prostate cancer and an Ashkenazi Jewish ancestor
  • Anyone with breast cancer and any of the following:       
    • Diagnosed at or before age 50
    • Triple negative breast cancer
    • Two separate breast cancer diagnoses
    • A close blood relative with breast cancer before age 50
    • A close relative with ovarian, male breast, high-grade prostate or pancreatic cancer
    • Two close relatives diagnosed with breast cancer at any age
  • Anyone who does not meet with above criteria but has a close relative with any of the following:
    • Breast cancer at or before age 45
    • Ovarian, fallopian tube, or primary peritoneal cancer
    • Male breast cancer
    • Pancreatic cancer
    • Metastatic prostate cancer
    • Two separate breast cancer diagnoses
    • Or two or more close relatives with breast cancer with at least one diagnosed before age 50
  • Anyone with a personal or family history of three or more of the following, especially if any of the cases are diagnosed before age 50:
    • Prostate cancer
    • Melanoma
    • Sarcoma
    • Adrenal cancer
    • Brain tumors
    • Leukemia
    • Uterine cancer
    • Thyroid cancer
    • Kidney cancer
    • Diffuse gastric cancer
    • Colon cancer
  • Additionally, NCCN recommends that patients with HER2-negative disease who are eligible for single-agent therapy, strongly consider testing for a BRCA 1/2 mutation. The presence of a BRCA mutation makes a patient eligible for Lynparza or Talzenna.

The NCCN guidelines for genetic testing, are slightly different from the guidelines above for genetic counseling. Once you visit a genetics expert, they can help you decide whether or not you would like to proceed with genetic testing and whether your insurance will cover the cost of testing. 

Some people find it useful to cite current NCCN guidelines when filing insurance appeals.  The guidelines cited here are from the guidelines published in 2018.

If you are uncertain if you meet the guidelines above and you are interested in or considering undergoing genetic testing, you should speak with a cancer genetics expert.

Updated 11/04/2018

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