Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium

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