Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review

被引：58

作者：

Arts-de Jong, Marieke ^{[1
]}

de Bock, Geertruida H. ^{[2
]}

van Asperen, Christi J. ^{[3
]}

Mourits, Marian J. E. ^{[4
]}

de Hullu, Joanne A. ^{[1
]}

Kets, C. Marleen ^{[5
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Obstet & Gynaecol, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands

[3] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

[4] Univ Groningen, Univ Med Ctr Groningen, Dept Obstet & Gynaecol, Groningen, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF CANCER | 2016年 / 61卷

关键词：

Probability; Epithelial ovarian cancer; BRCA mutation; Genetic testing; Referral; OLAPARIB MAINTENANCE THERAPY; FAMILY-HISTORY; CLINICAL CHARACTERISTICS; RISK-ASSESSMENT; FALLOPIAN-TUBE; BREAST; WOMEN; FREQUENCY; SURVIVAL; SUSCEPTIBILITY;

D O I：

10.1016/j.ejca.2016.03.009

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The presence of a germline BRCA1/2 mutation improves options for tailored risk-reducing strategies and treatment in both breast and ovarian cancer patients and their relatives. Currently, referral for germline BRCA1/2 mutation testing of women with epithelial ovarian cancer (EOC) varies widely, based on different criteria, such as age of onset, family history of breast and/or ovarian cancer and histological type of EOC. The overall probability of a germline BRCA1/2 mutation in women with EOC is above 10%, and a substantial part of the germline BRCA1/2 mutation carriers is missed when applying these criteria for referral. Therefore, we strongly recommend referral of all women with EOC for genetic counselling and DNA analysis. (C) 2016 Elsevier Ltd. All rights reserved.

引用

页码：137 / 145

页数：9

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