Breast cancer and ovarian cancer genetics: an update

The purpose of this report on breast cancer and ovarian cancer genetics is to review the evidence for the efficacy of surveillance for early detection, bilateral prophylactic mastectomy, prophylactic oophorectomy, and chemoprevention in preventing breast cancer and improving survival of BRCA1 and BRCA2 carriers. This collective review highlights radiologic screening of patients with this genetic predisposition for cancer as well as discusses cancer risk reduction strategies and reproductive concerns in female BRCA1/2 mutation carriers. It has now been well documented that magnetic resonance imaging (MRI) of the breast has a higher sensitivity than mammography for the diagnosis of breast cancer in patients predisposed to breast cancer. We also emphasize that a new diagnostic device, molecular breast imaging (MBI), is now available and may be as sensitive as MRI. To date, this exciting technology, MBI, has not been used in studies of patients with BRCA1/2 genes. We also discuss in more detail the unique psychological ramifications of female BRCA1/2 mutation carriers. These women face unique choices regarding management of their high risk for breast and ovarian cancer that impact their reproductive options. Despite their high levels of concern, few female BRCA1/2 mutation carriers consider assisted reproduction technologies such as pregnancy surrogate, cryopreservation of oocytes or embryos, or implantation genetic diagnosis to select embryos without BCRA1/2 mutation. Further research must be undertaken to explore the risk management of patients with inherited cancer predisposition and to incorporate these preferences into clinical care.