Stolier Alan J, Corsetti Ralph L
Department of Surgery, Tulane University Health Sciences Center, New Orleans, Louisiana 70112, USA.
Am Surg. 2005 Dec;71(12):1031-3.
In women diagnosed with breast cancer and testing positive for a BRCA1/2 mutation, decisions as to whether to undergo prophylactic risk-reduction surgery may differ from those women who test positive in a presymptomatic phase. Eighty-four women were identified who had undergone genetic testing at the time of breast cancer diagnosis. The study group consisted of 46 of these women who had initially undergone breast-conserving surgery. Eight patients (17.4%) tested positive for a mutation. Seven of the eight underwent bilateral prophylactic mastectomy prior to receiving radiation therapy. The only patient not undergoing bilateral mastectomy was awaiting liver transplant. Women who are candidates for breast-conserving surgery and who test positive for a breast cancer gene mutation choose mastectomy over surveillance.
在被诊断患有乳腺癌且BRCA1/2突变检测呈阳性的女性中，关于是否接受预防性风险降低手术的决策可能与那些在症状前阶段检测呈阳性的女性不同。研究确定了84名在乳腺癌诊断时接受过基因检测的女性。研究组由其中46名最初接受保乳手术的女性组成。8名患者（17.4%）检测出突变呈阳性。这8名患者中的7名在接受放射治疗前进行了双侧预防性乳房切除术。唯一未进行双侧乳房切除术的患者正在等待肝移植。适合保乳手术且乳腺癌基因突变检测呈阳性的女性选择乳房切除术而非监测。
