Division of Surgical Oncology, Department of Surgery, University of Alabama at Birmingham, Faculty Office Tower Suite 1153, 1720 2nd Avenue South, Birmingham, AL 35294-3411, USA.
Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building, Suite 230, 720 20th Street, South Birmingham, AL 35294-0024, USA.
Surg Clin North Am. 2018 Aug;98(4):677-685. doi: 10.1016/j.suc.2018.03.004. Epub 2018 May 30.
As more genetic information becomes available to inform breast cancer treatment, screening, and risk-reduction approaches, clinicians must become more knowledgeable about possible genetic testing and prevention strategies, including outcomes, benefits, risks, and limitations. The aim of this article is to define and distinguish high- and moderate-risk breast cancer predisposition genes, summarize the clinical recommendations that may be considered based on the identification of pathogenic variants (mutations) in these genes, and indications for risk-reducing and contralateral prophylactic mastectomy.
随着越来越多的遗传信息可用于指导乳腺癌的治疗、筛查和降低风险的方法，临床医生必须更加了解可能的基因检测和预防策略，包括结果、益处、风险和局限性。本文的目的是定义和区分高风险和中风险乳腺癌易感性基因，总结基于这些基因中致病性变异（突变）的识别而可能考虑的临床建议，以及降低风险和对侧预防性乳房切除术的适应证。
