BRCA1 and BRCA2 Gene Mutations: Decision-Making Dilemmas Concerning Testing and Management

The identification of the BRCA genes, and their possible etiologic relationship with various forms of inherited cancer, has been recognized universally as a cornerstone in the search of cancer’s genetic susceptibility. Female BRCA gene mutation carriers are found to carry an increased risk of developing breast or ovarian cancer and to a lesser degree, colon cancer, and male BRCA mutation carriers are also related to an increased risk of breast, colon, or prostate cancer. Although genetic testing promises a possible future presymptomatic determination and treatment of women who are genetically susceptible to cancer, current data reveal certain dilemmas and uncertainties regarding our ability to interpret the results from testing and offer effective management options. In addition, several complex ethical, legal, and social issues have been revealed with the advent of this new information, which also confirm the need for additional research regarding the most effective use of this genetic information and for the establishment of appropriate clinical management strategies. Target Audience Obstetricians & Gynecologists, Family Physicians Learning Objectives After completion of this article, the reader will be able to list the various malignant predispositions associated with BRCA gene mutations, to describe the methods used to detect these mutations including their weaknesses, and to outline a proposed management plan for patients with BRCA gene mutations.