Who Should Consider Genetic Counseling and Testing for Breast and Ovarian Cancer? : Guidelines Have Expanded

 Photo Credit:  Mehmet Pinarci , via Flickr

Photo Credit:  Mehmet Pinarci , via Flickr

Hereditary Breast and Ovarian Cancer syndrome (HBOC) is a well-known hereditary cancer syndrome characterized by early-onset breast cancer as well as ovarian, pancreatic, prostate cancers and/or melanoma.  Genetic counseling and testing can help individuals learn more about their cancer risks, and their options for surveillance and risk reduction. Approximately 10% of all cancer is thought to be hereditary.

Anyone with the following risk factors in their personal or family history should consider seeing a certified genetic counselor to learn more about their risks and genetic testing options:

  • Breast cancer diagnosed before the age of 50
  • Breast cancer that is triple negative (ER-/PR-/Her-2-) and diagnosed before age 60.
  • Even one case of ovarian cancer.
  • Male breast cancer.
  • Personal history of pancreatic or prostate cancer at any age and one case of breast, ovarian pancreatic, or prostate cancer. The prostate cancers in the family should have a Gleason score of ≥7. **
  • Multiple HBOC cancers in one person (ex: an individual diagnosed with two breast primaries, with both breast and ovarian or with breast and pancreatic cancer).
  • The combination of breast, ovarian, and/or pancreatic cancer on the same side of the family.
  • Jewish ancestry in combination with any of the above.
  • Jewish ancestry and one case of breast (at any age), ovarian or pancreatic cancer (even in the absence of additional family history).
  • Known genetic mutation in the family (e.g. BRCA1, BRCA2).
  • A BRCA1/2 mutation found on genetic testing of a tumor sample (known as a somatic mtuation).***
  • Patients diagnosed with advanced breast cancer that is HER2-negative AND who are eligible for single-agent chemotherapy are eligible for germline BRCA 1/2 testing.  If BRCA+, they may be a candidate to take a medication called Olaparib (also called Lynparza), a PARP inhibitor that is FDA approved for the treatment of patients with advanced breast cancer and  BRCA pathogenic variants.****

*The risk factors listed above should not be used exclusively to determine candidates for genetic counseling.  There are other factors that should be evaluated when determining a person’s risk such as their family size, number of female relatives, prophylactic surgeries and adoption.  The above risk factors pertain to HBOC.  For a full assessment, risk factors for other hereditary cancer syndromes should also be evaluated.  

*Insurance coverage for testing varies and preauthorization is performed after a detailed personal/family history is obtained.

**NCCN 2016 Version 2.2016 

***NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 1.2018

****NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Version 4.2017