Chiba Akiko, Hoskin Tanya L, Hallberg Emily J, Cogswell Jodie A, Heins Courtney N, Couch Fergus J, Boughey Judy C
Department of Surgery, Mayo Clinic, Rochester, MN, USA.
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Ann Surg Oncol. 2016 Oct;23(10):3232-8. doi: 10.1245/s10434-016-5328-7. Epub 2016 Jun 23.
Deleterious BRCA mutation carriers with breast cancer are at increased risk for additional breast cancer events. This study evaluated the impact that timing of identification of BRCA+ status has on surgical decision and outcome.
The authors reviewed all BRCA carriers at their institution whose breast cancer was diagnosed between January 1996 and June 2015. Patient surveys, medical records, and institutional databases were used to collect data. Differences in surgical choice were analyzed using the chi-square test, and rates of subsequent breast cancer events were estimated using the Kaplan-Meier method.
The study investigated 173 BRCA carriers with breast cancer (100 BRCA1, 73 BRCA2). Of the women with known BRCA mutation before surgery and unilateral stages 0 to 3 breast cancer (n = 63), 12.7 % underwent lumpectomy, 4.8 % underwent unilateral mastectomy (UM), and 82.5 % underwent bilateral mastectomy (BM). These surgical choices differed significantly (p < 0.0001) from those of patients unaware of their mutation at the time of surgery (n = 93) (51.6 % had lumpectomy, 19.4 % had UM, 29 % had BM). Of the patients with BRCA mutation identified after surgery who underwent lumpectomy or UM, 36 (59 %) of 66 underwent delayed BM. The patients with BRCA+ known before diagnosis presented with significantly lower-stage disease (p = 0.02) at diagnosis (69 % stage 0 or 1) than those whose BRCA mutation was identified after cancer diagnosis (40 % stage 0 or 1).
The study findings showed that BRCA mutation status influences surgical decision. The rates of BM were higher for the patients with BRCA mutation known before surgery. Identification of BRCA mutation after surgery frequently leads to subsequent breast surgery. Genetic testing before surgery is important for patients at elevated risk for BRCA mutation.
携带有害BRCA突变的乳腺癌患者发生额外乳腺癌事件的风险增加。本研究评估了BRCA+状态的识别时机对手术决策和结果的影响。
作者回顾了1996年1月至2015年6月期间在其机构诊断为乳腺癌的所有BRCA携带者。通过患者调查、病历和机构数据库收集数据。使用卡方检验分析手术选择的差异，并使用Kaplan-Meier方法估计后续乳腺癌事件的发生率。
该研究调查了173例携带BRCA突变的乳腺癌患者（100例BRCA1，73例BRCA2）。在术前已知BRCA突变且为单侧0至3期乳腺癌的女性（n = 63）中，12.7%接受了保乳手术，4.8%接受了单侧乳房切除术（UM），82.5%接受了双侧乳房切除术（BM）。这些手术选择与手术时不知道自己突变的患者（n = 93）有显著差异（p < 0.0001）（51.6%接受保乳手术，19.4%接受UM，29%接受BM）。在术后发现BRCA突变并接受保乳手术或UM的患者中，66例中有36例（59%）接受了延迟BM。诊断前已知BRCA+的患者在诊断时的疾病分期（69%为0期或1期）明显低于癌症诊断后发现BRCA突变的患者（40%为0期或1期）（p = 0.０2）。
研究结果表明，BRCA突变状态会影响手术决策。术前已知BRCA突变的患者接受BM的比例更高。术后发现BRCA突变通常会导致后续乳房手术。术前基因检测对BRCA突变风险较高的患者很重要。
