reast cancer is the most common cancer in women, and is the second leading cause of cancer deaths. The age and incidence-adjusted estimates for new breast cancer cases in the United States for 2018 are 266 120 (15.3% of all new cancers), with 40 920 breast cancer deaths (6.7% of all cancer deaths) (1). Ovarian cancer is the fifth most common cancer in women and the fifth leading cause of cancer deaths. The estimates for new ovarian cancer cases in the United States for 2018 are 22 240 (1.3% of all new cancers), with 14 070 ovarian cancer deaths (2.3% of all cancer deaths) (2). Most breast and ovarian cancers occur sporadically. However, some women are predisposed to higher rates of breast and ovarian cancers secondary to an underlying genetic mutation, which are often referred to as hereditary breast and ovarian cancer susceptibility gene mutations.Family history is a well-known risk factor for breast and ovarian cancer, but there is a distinction between hereditary and familial cancer risks. Familial cancers occur in certain families with statistically greater frequency than in the general population. They typically do not exhibit a specific inheritance pattern and have no specific age of onset. Hereditary cancers most commonly occur as a result of genetic mutations. The majority of these gene mutations have an autosomal dominant transmission pattern (ie, first-degree relatives of an affected individual have a 50% risk of having the same gene mutation). These mutations are germline mutations that are not sex linked and can be transmitted equally from either parent. Affected individuals are at higher risk for bilateral disease, multifocal disease, and cancer onset at an earlier age, as well as for the uncommon clustering of cancers, including pancreatic cancer, melanoma, cholangiocarcinoma, and prostate cancer (3,4).Approximately 5%-10% of all breast cancers and up to 15% of all ovarian cancers are associated with an inheritable genetic mutation (5-8). The most common genetic mutations implicated in hereditary breast and ovarian cancers have been mapped to the BRCA1 (chromosome 17q21) and BRCA2 (chromosome 13q12.3) genes (9,10). The purpose of this article is to review the current screening guidelines for breast and ovarian cancers in patients who test positive for BRCA mutation and to briefly review the imaging features that are suspicious for early breast and ovarian cancers.
Prevalence and Cancer RiskThe prevalence of the BRCA genetic mutation in the general population is relatively low (one in 400). However, certain populations have a higher incidence, particularly those with Ashkenazi Jewish ancestry (one in 40) due to