Clinical Considerations in the Management of Individuals at Risk for Hereditary Breast and Ovarian Cancer

Mark E. Robson, MD

Disclosures

Cancer Control. 2002;9(6) 

In This Article

Cancer Risks in Individuals With Deleterious BRCA Mutations

Current estimates of the cancer risks associated with germline mutations in BRCA1 or BRCA2 are presented in Table 3 . All studies have demonstrated increased risks of female breast and ovarian cancer (including fallopian tube and primary peritoneal cancers), as well as prostate cancer, for both BRCA1 and BRCA2. Mutations in BRCA2 have also been associated with increased risks of a variety of other malignancies, including pancreatic cancer, stomach cancer, and various forms of head and neck cancer. BRCA2 has been associated with a large increase in relative risk for male breast cancer, although the absolute risk remains low. Although there are no formal estimates of male breast cancer risk associated with BRCA1, it is noted that nearly 20% of families in the BCLC with both male and female breast cancer were linked to this gene rather than to BRCA2, indicating that germline mutations in this gene may also result in an increase in male breast cancer risk.

Risk estimates have varied widely among series, in part due to different methods of ascertainment and penetrance calculation. In general, higher risk estimates have been generated by studies of families ascertained on the basis of multiple cases of early-onset breast cancer (and ovarian cancer), while lower penetrance figures are derived from the study of less highly selected families. Genetic or environmental factors not yet unidentified may also influence the penetrance of the inherited predisposition, and these factors may be distributed differently in the reported study populations. Finally, there may be gene-specific and even mutation-specific differences in risk. For example, it appears that both breast and ovarian cancer risk may be lower among BRCA2 carriers than among BRCA1 carriers, these cancers may occur at later ages, on average, in BRCA2 carriers, and risk may also vary with the location of the mutation within the gene.[34,35]

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