Hereditary Breast and Ovarian Cancer

A family history of premenopausal breast cancer in a first-degree relative doubles personal breast cancer risk. These women may benefit from earlier screening and should be counseled about the benefits of early detection. An autosomal dominant pattern of inheritance is seen in a much smaller number of families, perhaps 5% of women with breast cancer, known as hereditary breast and ovarian cancer (HBOC) syndrome. Current USPSTF guidelines suggest that physicians should recognize individuals from such families because they may benefit from counseling about HBOC and testing for mutations in the BRCA1 and BRCA2 genes. The USPSTF recommends against using BRCA and mutation testing as a screening tool in the absence of a suggestive personal or family history. Numerous BRCA mutations have been found, and their prevalence in the general population is about 1 in 800, but up to 1 in 40 in people of Ashkenazi Jewish descent. Pretest and post-test counseling is very important for HBOC. The presence of many rare mutations and mutations of unknown clinical significance in the population can make interpretation of testing complicated, and involvement of a clinician with specialized knowledge is advisable.

Women with BRCA mutations may have up to an 80% lifetime risk of breast cancer and a 40% risk of ovarian cancer depending on the mutation. The risk of other cancers is also greater, although less so. It is important to recognize that males with a BRCA mutation develop breast cancer at much higher rates than the general population. In fact, a diagnosis of male breast cancer should lead to a careful review of family history. Personal risk depends on the specific gene variant involved and other risk factors. Aggressive strategies aimed at early detection (e.g., breast MRI) are frequently recommended, but evidence of comparative effectiveness is lacking. Interventions such as bilateral mastectomy and oophorectomy have an enormous impact on women's lives, but evidence suggests these surgeries may confer up to a 90% reduction in cancer risk (NCCN, 2008).

Evidence regarding prophylaxis with tamoxifen or related agents is equivocal and may be related to the specific causal mutation. Although routinely offered to individuals with BRCA mutations, little evidence supports the use of annual CA-125 and transvaginal ultrasound to screen for ovarian cancer. Options for prevention and treatment are increasing over time, and more targeted and less invasive options may become available.

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