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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), also known as BRCA-Related Breast and/or Ovarian Cancer syndrome, is a well-known hereditary cancer syndrome characterized by increased risk for breast, ovarian, prostate, and pancreatic cancers and possibly melanoma.  Genetic counseling and testing can help individuals learn more about their cancer risks as well as their options for surveillance and risk reduction. Approximately 10% of all cancer is thought to be hereditary. At least 15% of ovarian cancer is suspected 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 whether genetic testing is appropriate:

  • History of one of the following at any age:
    • ovarian cancer
    • pancreatic cancer
    • metastatic prostate cancer
    • male breast cancer
  • Individual with breast cancer and following characteristics:
    • diagnosis of breast cancer is < 50
    • breast cancer is triple negative and at < 60
    • multiple primary breast cancers in individual
  • Individual with breast cancer and family history of:
    • breast cancer < 50
    • invasive ovarian cancer
    • male breast cancer
    • pancreatic cancer
    • high-grade/metastatic prostate cancer
    • >2 relatives with histories of breast cancer
  • Jewish ancestry and breast cancer or high-grade prostate cancer (Gleason score > 7)
  • Multiple BRCA-related cancers in one person (ex: an individual diagnosed with two breast primaries, with both breast and ovarian, or with breast and pancreatic cancers)
  • Known pathogenic genetic variant (mutation) in the family (e.g. pathogenic BRCA1/2 mutation)
  • A pathogenic BRCA1/2 variant found on genetic testing of a tumor sample (known as a somatic variant)

If someone does not not meet the above criteria for genetic counseling themselves but a close relative does, genetic counseling may still be indicated. A genetic counselor can determine whether genetic testing is appropriate and who in the family should be tested first.

BRCA status may affect cancer treatment decisions and should be discussed with health care providers. Examples include:

  • BRCA+ women with ovarian cancer, especially recurrent ovarian cancer, may be more likely to be offered a medication called a PARP inhibitor.
  • BRCA+ women with metastatic HER2-negative breast cancer may qualify for a PARP inhibitor.
  • BRCA+ men with prostate cancer may be considered for early use of platinum chemotherapy or be eligible for clinical trials (e.g. PARP inhibitors).

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, preventive breast and GYN surgeries, and adoption.  The above risk factors pertain to BRCA-Related Breast and/or Ovarian Cancer syndrome only.  For a full assessment, risk factors for other hereditary cancer syndromes should also be evaluated.

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

NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 2.2019

NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Version 4.2017

NCCN Breast Cancer 1.2018

Benafif 2015

De Felice 2017

Domchek 2016