Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2

The National Cancer Institute estimates that 12.3% of all women (about 1 in 8) would be diagnosed with breast cancer throughout their lifetime. In 2015, a projected 231,840 new cases are expected in the United States, accompanied by 40,290 deaths. Presently, breast cancer is responsible for 6.8% of all cancer deaths, and roughly 30% of all cancers in women. Since the discovery of the BRCA gene in 1994, efforts have been made to develop effective screening methods for breast cancer detection. Although the BRCA gene certainly opened the door to breast cancer genetics, a wide variety of new genes have recently been linked to breast cancer risk, and the tools to screen for genes beyond just BRCA1 and BRCA2 are available. However, the indications for both screening and prevention of inherited predispositions beyond BRCA1 and BRCA2 are not entirely clear, and as a result, much of the ongoing work is aimed at determining the role of broader genetic screening in women deemed at sufficiently high risk for breast cancer based on family history. On this topic, we provide a brief overview of the genes associated with breast cancer risk as well as the technological platforms available to patients. We conclude by discussing recommendations of expert groups and what they practically mean for patients.