携带BRCA1或BRCA2基因突变的女性在双侧预防性乳房切除术后发生的乳腺癌。

Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.

作者信息

Meijers-Heijboer H, van Geel B, van Putten W L, Henzen-Logmans S C, Seynaeve C, Menke-Pluymers M B, Bartels C C, Verhoog L C, van den Ouweland A M, Niermeijer M F, Brekelmans C T, Klijn J G

机构信息

Department of Medical Oncology, Erasmus University Medical Center, Rotterdam, The Netherlands.

出版信息

N Engl J Med. 2001 Jul 19;345(3):159-64. doi: 10.1056/NEJM200107193450301.

DOI:10.1056/NEJM200107193450301

PMID:11463009

Abstract

BACKGROUND

Women with a BRCA1 or BRCA2 mutation have a high risk of breast cancer and may choose to undergo prophylactic bilateral total mastectomy. We investigated the efficacy of this procedure in such women.

METHODS

We conducted a prospective study of 139 women with a pathogenic BRCA1 or BRCA2 mutation who were enrolled in a breast-cancer surveillance program at the Rotterdam Family Cancer Clinic. At the time of enrollment, none of the women had a history of breast cancer. Seventy-six of these women eventually underwent prophylactic mastectomy, and the other 63 remained under regular surveillance. The effect of mastectomy on the incidence of breast cancer was analyzed by the Cox proportional-hazards method in which mastectomy was modeled as a time-dependent covariate.

RESULTS

No cases of breast cancer were observed after prophylactic mastectomy after a mean (+/-SE) follow-up of 2.9+/-1.4 years, whereas eight breast cancers developed in women under regular surveillance after a mean follow-up of 3.0+/-1.5 years (P=0.003; hazard ratio, 0; 95 percent confidence interval, 0 to 0.36). The actuarial mean five-year incidence of breast cancer among all women in the surveillance group was 17+/-7 percent. On the basis of an exponential model, the yearly incidence of breast cancer in this group was 2.5 percent. The observed number of breast cancers in the surveillance group was consistent with the expected number (ratio of observed to expected cases, 1.2; 95 percent confidence interval, 0.4 to 3.7; P=0.80).

CONCLUSIONS

In women with a BRCA1 or BRCA2 mutation, prophylactic bilateral total mastectomy reduces the incidence of breast cancer at three years of follow-up.

摘要

背景

携带BRCA1或BRCA2基因突变的女性患乳腺癌风险很高，她们可能会选择接受双侧预防性全乳房切除术。我们研究了该手术对此类女性的疗效。

方法

我们对139名携带致病性BRCA1或BRCA2基因突变且在鹿特丹家庭癌症诊所参加乳腺癌监测项目的女性进行了一项前瞻性研究。入组时，这些女性均无乳腺癌病史。其中76名女性最终接受了预防性乳房切除术，另外63名女性继续接受常规监测。采用Cox比例风险法分析乳房切除术对乳腺癌发病率的影响，其中将乳房切除术作为时间依赖性协变量进行建模。

结果

在平均（±标准误）2.9±1.4年的随访后，预防性乳房切除术后未观察到乳腺癌病例，而在平均随访3.0±1.5年的常规监测女性中，有8例患乳腺癌（P=0.003；风险比为0；95%置信区间为0至0.36）。监测组所有女性的乳腺癌精算平均五年发病率为17±7%。根据指数模型，该组乳腺癌的年发病率为2.5%。监测组观察到的乳腺癌病例数与预期病例数一致（观察病例数与预期病例数之比为1.2；95%置信区间为0.4至3.7；P=0.80）。