BRCA Testing

Murfreesboro Surgical Specialists follows the American Society of Breast Surgeons’ Consensus Statement (see below), which was most recently revised in September 2012. This Society meets yearly and adheres to the most current findings by academic institutions.

“Of the more than 200,000 breast cancers diagnosed annually in the United States, 5-10% are associated with obvious hereditary predisposition, which is mostly related to autosomal dominant mutations of the BRCA1 and BRCA2 genes. BRCA1/2 mutations confer an increased lifetime risk for the development of breast cancer (up to 80%), contralateral breast cancer (about 30% at 10 years), ovarian cancer (up to 40% for BRCA1 and 20% for BRCA2), and other cancers. BRCA mutations are rare in the general population, occurring in 1 per 400-800 individuals, but high-risk populations exist and include persons with the following:

  • Personal history of early onset breast cancer (diagnosed before age 50)
  • Two primary breast cancers, either bilateral or ipsilateral
  • Family history of early onset breast cancer
  • Male breast cancer
  • Personal or family history of ovarian cancer (particularly nonmucinous types)
  • Ashkenazi (Eastern European) Jewish heritage in the setting of a newly diagnosed breast cancer 
or family history of breast cancer
  • A previously identified BRCA1 or BRCA2 mutation in the family
  • “Triple negative” (ER-, PR-, Her2 normal) breast cancer diagnosed prior to age 60.
  • Pancreatic cancer associated with a family history of hereditary breast and ovarian related.

Any one of these features alone indicates a risk for harboring a BRCA1 or BRCA2 mutation, therefore, these patients should be counseled and have access to BRCA testing. A simple risk-calculation model based on the prevalence of mutations seen among women tested for BRCA mutations is available at http://www.brcacalculator.com.

Breast surgeons are in an ideal potential position to identify high-risk individuals, encourage and provide access for BRCA testing, and propose individualized management strategies for those patients who test positive. In many areas of the country, breast surgeons can fill the unmet need for appropriate counseling of these high-risk patients.