Similar to other disease sites, prostate cancer has seen a surge in genetic testing options. To help address the role of genetic testing in prostate cancer disease management, the NCCN Clinical Practice Guidelines in Oncology were updated in February 2018 to include germline recommendations.
PARP inhibitors were the first class of drugs specifically developed to treat BRCA-related tumors by targeting the DNA repair pathway. Although they were developed more than a decade ago, the FDA only granted approval for their clinical use a few years ago.
BRCA1 and BRCA2 mutations have been shown to confer an increased risk for ovarian, fallopian tube, and primary perineal cancer. As a result, guidelines recommend bilateral salpingo-oophorectomy (BSO) upon completion of child bearing, and preferably between the ages of 35 and 40 years as a risk-reducing option. However, what has been less clear is the association of uterine cancer with BRCA. The data have been conflicting: some studies have suggested a slight increased risk, but others have not. Therefore, hysterectomy has not been included in national medical management guidelines.
In the past few years, some of the classic phenotypes and associated cancer risk estimates of inherited cancer syndromes have been questioned. This is due partly to increased access to genetic testing as well as to the availability of next-generation sequencing (NGS) panels for inherited cancer.