BRCA1 阴性和 BRCA1 阳性乳腺癌患者的 10 年生存情况。

Ten-year survival in patients with BRCA1-negative and BRCA1-positive breast cancer.

机构信息

Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bohdan Górski, Pawel Domagała, Cezary Cybulski, Oleg Oszurek, and Jan Lubiński, Pomeranian Medical University, Szczecin; Marek Szwiec, Regional Oncology Center, Opole; Karol Gugała, District Specialist Hospital, Olsztyn; Malgorzata Stawicka, Regional Oncology Center, Poznań; Zbigniew Morawiec, Regional Oncology Center, Łódź; Tomasz Mierzwa, Regional Oncology Hospital; Hanna Janiszewska, Nicolaus Copernicus University, Bydgoszcz; Ewa Kilar, District Specialist Hospital, Świdnica; Elzbieta Marczyk, Regional Oncology Center, Kraków; Beata Kozak-Klonowska and Monika Siołek, Regional Oncology Center, Kielce; Dariusz Surdyka, St John's Cancer Center, Lublin; Rafal Wiśniowski, Regional Oncology Hospital, Bielsko Biała; Michal Posmyk, Regional Oncology Center, Białystok, Poland; and Ping Sun and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada.

出版信息

J Clin Oncol. 2013 Sep 10;31(26):3191-6. doi: 10.1200/JCO.2012.45.3571. Epub 2013 Aug 12.

DOI:10.1200/JCO.2012.45.3571

PMID:23940229

Abstract

PURPOSE

To estimate 10-year overall survival (OS) rates for patients with early-onset breast cancer, with and without a BRCA1 mutation, and to identify prognostic factors among those with BRCA1-positive breast cancer.

PATIENTS AND METHODS

A total of 3,345 women with stage I to III breast cancer, age ≤ 50 years, were tested for three founder mutations in BRCA1. Information on tumor characteristics and treatments received was retrieved from medical records. Dates of death were obtained from the vital statistics registry. Survival curves for the mutation-positive and -negative subcohorts were compared. Predictors of OS were determined using the Cox proportional hazards model.

RESULTS

Of the 3,345 patients enrolled onto the study, 233 (7.0%) carried a BRCA1 mutation. The 10-year survival rate for mutation carriers was 80.9% (95% CI, 75.4% to 86.4%); for noncarriers, it was 82.2% (95% CI, 80.5% to 83.7%). The adjusted hazard ratio (HR) associated with carrying a BRCA1 mutation was 1.81 (95% CI, 1.26 to 2.61). Among BRCA1 carriers with a small (< 2 cm) node-negative tumor, the 10-year survival rate was 89.9%. Among BRCA1 mutation carriers, positive lymph node status was a strong predictor of mortality (adjusted HR, 4.1; 95% CI, 1.8 to 8.9). Oophorectomy was associated with improved survival in BRCA1 carriers (adjusted HR, 0.30; 95% CI, 0.12 to 0.75).

CONCLUSION

The 10-year survival rate among women with breast cancer and a BRCA1 mutation is similar to that of patients without a BRCA1 mutation. Among women with a BRCA1 mutation, survival was much improved after oophorectomy.

摘要

目的

评估携带 BRCA1 突变和不携带 BRCA1 突变的早发性乳腺癌患者的 10 年总生存率（OS），并确定 BRCA1 阳性乳腺癌患者的预后因素。

方法

共纳入 3345 例年龄≤50 岁、Ⅰ期至Ⅲ期乳腺癌患者，检测 BRCA1 中的 3 个热点突变。从病历中获取肿瘤特征和治疗信息。从生命统计登记处获取死亡日期。比较突变阳性和阴性亚组的生存曲线。使用 Cox 比例风险模型确定 OS 的预测因素。

结果

在纳入研究的 3345 例患者中，有 233 例（7.0%）携带 BRCA1 突变。突变携带者的 10 年生存率为 80.9%（95%CI，75.4%至 86.4%）；非携带者为 82.2%（95%CI，80.5%至 83.7%）。携带 BRCA1 突变与调整后的危险比（HR）为 1.81（95%CI，1.26 至 2.61）。在携带 BRCA1 突变且淋巴结阴性肿瘤较小（<2cm）的患者中，10 年生存率为 89.9%。在 BRCA1 突变携带者中，阳性淋巴结状态是死亡的强烈预测因素（调整 HR，4.1；95%CI，1.8 至 8.9）。卵巢切除术与 BRCA1 携带者的生存改善相关（调整 HR，0.30；95%CI，0.12 至 0.75）。