Lokich Elizabeth, Stuckey Ashley, Raker Christina, Wilbur Jennifer Scalia, Laprise Jessica, Gass Jennifer
Division of Women's Oncology, Department of Obstetrics and Gynecology, Warren Alpert Medical School of Brown University, Women and Infants Hospital of Rhode Island, Providence, RI, United States.
Division of Women's Oncology, Department of Obstetrics and Gynecology, Warren Alpert Medical School of Brown University, Women and Infants Hospital of Rhode Island, Providence, RI, United States.
Gynecol Oncol. 2014 Aug;134(2):326-30. doi: 10.1016/j.ygyno.2014.05.028. Epub 2014 Jun 5.
Our aim was to determine if BRCA mutation status changes surgical decision making in women who undergo genetic testing after the diagnosis of breast cancer.
This is a retrospective cohort study of breast cancer patients who had BRCA mutation testing performed prior to surgery. We compared surgical choice and change in surgical choice in women who tested positive for a BRCA mutation with those who tested negative. Surgery was considered the most definitive surgery within a year of diagnosis. Other data collected included age, race, stage, histology, receptor status, adjuvant treatment, gravity, parity, and family history. Variables were compared by BRCA status using Fisher's exact test and logistic regression.
Three hundred and two women were included. Thirty-two (10.6%) were identified as carrying a BRCA mutation. Most women had early stage disease (55.6% T1 lesions, 72.8% node negative); 55.6% had breast-conserving surgery, and the remaining had unilateral or bilateral mastectomy. BRCA mutation carriers were more likely to have both a personal history of breast cancer (RR 2.74, 95% CI=1.08-6.98) and hormone receptor-negative tumors (56.0% vs. 26.2%, p=0.002). BRCA mutation carriers were more likely to choose bilateral mastectomy with reconstruction (56.3% vs. 15.9%, p<0.0001); 71.9% of BRCA mutation carriers opted for a different surgery than what was initially planned by their surgeon as compared to 29% of mutation-negative patients (p<0.0001).
BRCA mutation testing strongly influences surgical decision making in newly diagnosed breast cancer patients. For women who meet NCCN referral guidelines, genetic evaluation should be performed prior to surgical intervention.
我们的目的是确定在乳腺癌诊断后接受基因检测的女性中，BRCA突变状态是否会改变手术决策。
这是一项对术前进行BRCA突变检测的乳腺癌患者的回顾性队列研究。我们比较了BRCA突变检测呈阳性的女性与检测呈阴性的女性的手术选择及手术选择的变化。手术被视为诊断后一年内最具确定性的手术。收集的其他数据包括年龄、种族、分期、组织学、受体状态、辅助治疗、产次、孕次和家族史。使用Fisher精确检验和逻辑回归按BRCA状态比较变量。
纳入了302名女性。32名（10.6%）被确定携带BRCA突变。大多数女性患有早期疾病（55.6%为T1期病变，72.8%无淋巴结转移）；55.6%接受了保乳手术，其余接受了单侧或双侧乳房切除术。BRCA突变携带者更有可能有个人乳腺癌病史（相对危险度2.74，95%置信区间=1.08 - 6.98）和激素受体阴性肿瘤（56.0%对26.2%，p = 0.002）。BRCA突变携带者更有可能选择双侧乳房切除并重建（56.3%对15.9%，p < 0.0001）；71.9%的BRCA突变携带者选择了与外科医生最初计划不同的手术，而突变阴性患者为29%（p < 0.0001）。
BRCA突变检测强烈影响新诊断乳腺癌患者的手术决策。对于符合NCCN转诊指南的女性，应在手术干预前进行基因评估。
