Objective. —To provide recommendations for and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes. Participants. —A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by National Human Genome Research Institute (previously the National Center for Human Genome Research). Evidence. —Studies evaluating risk, surveillance, and risk reduction in individuals genetically susceptible to and were identified using MEDLINE (National Library of Medicine) and from bibliographies of articles thus identified. Indexing terms used were genetics in combination with breast cancer, ovarian cancer, and screening, or surveillance in combination with cancer family and BRCA1 and BRCA2 . For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. Consensus Process. —The task force developed recommendations through discussions over a 14-month period. Conclusions. —Efficacy of or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on expert opinion concerning presumptive benefit, early and screening are recommended for individuals with BRCA1 mutations and early screening for those with BRCA2 mutations. No recommendation is made for or against prophylactic surgery (eg, mastectomy, oophorectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, and case reports have documented the occurrence of following prophylactic surgery. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.
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