BRCA1 和 BRCA2 突变女性的风险管理决策。
Risk management decisions in women with BRCA1 and BRCA2 mutations.
机构信息
Oregon Health & Science University, Department of Surgery, Portland, OR, USA.
Oregon Health & Science University, School of Medicine, Portland, OR, USA.
出版信息
Am J Surg. 2018 May;215(5):899-903. doi: 10.1016/j.amjsurg.2018.02.010. Epub 2018 Feb 13.
INTRODUCTION
Pathogenic mutations and variants of uncertain significance (VUS) occur in BRCA1/2 genes.
METHODS
Records of women with a pathogenic mutation or VUS in BRCA1/2 treated between 2008 and 2017 were reviewed.
RESULTS
One hundred and ten women were included. Mean age was 47. A pathogenic mutation or a VUS in BRCA1/2 was detected in 85 (77%) and 25 (23%) patients, respectively. The rate of risk reducing mastectomy (RRM) was 50% in women with a pathogenic mutation and 30% in women with a VUS (P = 0.232). Among women with breast cancer, 65% with a pathogenic mutation and 40% with a VUS underwent RRM. Over 50% of women with a pathogenic mutation in BRCA1/2 chose surveillance over operation.
DISCUSSION
There was no statistical difference in the rate of RRM among women with a pathogenic mutation or a VUS in BRCA1/2 in our population. The majority of high risk women in our study chose to forgo RRM for breast cancer screening.
介绍
BRCA1/2 基因中存在致病突变和意义未明的变异（VUS）。
方法
回顾了 2008 年至 2017 年间治疗的携带 BRCA1/2 致病性突变或 VUS 的女性患者的记录。
结果
共纳入 110 名女性。平均年龄为 47 岁。分别有 85 名（77%）和 25 名（23%）患者检测出 BRCA1/2 的致病性突变或 VUS。携带致病性突变的女性行预防性乳房切除术（RRM）的比例为 50%，携带 VUS 的女性为 30%（P=0.232）。在患有乳腺癌的女性中，65%携带致病性突变，40%携带 VUS 的女性行 RRM。BRCA1/2 携带致病性突变的女性中，超过 50%选择监测而不是手术。
讨论
在我们的人群中，携带 BRCA1/2 致病性突变或 VUS 的女性之间 RRM 的比率没有统计学差异。我们的研究中大多数高危女性选择放弃乳腺癌筛查的 RRM。
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