Risk management decisions in women with BRCA1 and BRCA2 mutations

被引：9

作者：

Morgan, Rosemary ^{[1
]}

Brown, Audrey ^{[2
]}

Hamman, Kelly Jo ^{[3
]}

Sampson, Jone ^{[3
]}

Naik, Arpana ^{[1
]}

Massimino, Kristen ^{[4
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Surg, Portland, OR 97201 USA

[2] Oregon Hlth & Sci Univ, Sch Med, Portland, OR 97201 USA

[3] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[4] Providence Canc Inst, Portland, OR USA

来源：

AMERICAN JOURNAL OF SURGERY | 2018年 / 215卷 / 05期

关键词：

Breast cancer; Genetic testing; BRCA; Variants of uncertain significance; UNCERTAIN SIGNIFICANCE; UNKNOWN SIGNIFICANCE; SURGICAL DECISIONS; VARIANTS; CARRIERS; BREAST;

D O I：

10.1016/j.amjsurg.2018.02.010

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

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. (c) 2018 Elsevier Inc. All rights reserved.

引用

页码：899 / 903

页数：5

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