Paralleling trends in other clinical areas, breast cancer risk testing is transitioning from single-marker testing to more comprehensive analysis. This broadened focus extends to both wider analysis of BRCA mutations and multigene panels, as well as the potential use of comprehensive sequencing to thoroughly assess a woman’s breast cancer risk. Expansion of the scope of testing comes amid other calls to scale BRCA screening to include all women, regardless of familial cancer history, as part of routine medical care. Previous estimates show that of the 5 percent to 10 percent of hereditary breast cancer cases, only about one-fourth involve single-gene conditions. BRCA1/2 are the most notable of the known genes conferring a higher breast and ovarian cancer risk. But there are other recognized high-risk cancer genes associated with other cancers in addition to breast and ovarian cancer, such as PTEN, p53, CDH1, and STK11. There are also moderate- to low-penetrance breast cancer genes (PALB2, CHEK2, ATM) that are being incorporated into multigene panels. The challenge posed with incorporation of these genes into analysis is a lack of consensus around guidelines for how to provide ongoing management for patients testing positive for these gene mutations. Further fueling debate over the best […]