How is family history–based risk for breast cancer assessed?

Updated: Feb 04, 2021
  • Author: Pavani Chalasani, MD, MPH; Chief Editor: John V Kiluk, MD, FACS  more...
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To aid in the identification of mutation carriers of BRCA1/2, a number of family history–based risk assessment tools have been developed for clinical use, including the following:

  • Couch
  • Myriad I and II
  • Ontario Family History Assessment Tool (FHAT)
  • Manchester

All of these assessment tools are highly predictive of carrier status and aid in reducing testing costs for the majority of mutation negative families. [10] BRCAPRO, the most commonly used model, identifies approximately 50% of mutation-negative families, avoiding unnecessary genetic testing, and fails to screen only about 10% of mutation carriers.

Notably, a significant portion of ovarian cancers not previously considered familial can be attributed to BRCA1 or BRCA2 mutations. [11] This finding has led to the suggestion that women with nonmucinous invasive ovarian cancers may benefit from genetic testing to determine mutation status independent of a strong history or no history of breast cancer.

The National Society of Genetics Counselors provides a Find a Genetic Counselor directory. The directory lists over 3300 counselors in the United States and Canada who will meet with patients in person or by phone, video conferencing, or other virtual methods.

Direct-to-consumer genetic testing

In March 2018 the US Food and Drug Administration (FDA) authorized the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants). This direct-to-consumer test analyzes DNA collected from a self-collected saliva sample for three specific BRCA1/BRCA2 breast cancer gene mutations that are most common in people of Ashkenazi Jewish descent. The FDA notes that more than 1,000 BRCA mutations have been identified, and the three mutations, detected by this testare not the most common BRCA1/BRCA2 mutations in the general population. [12]

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