A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

复发性 ERCC3 截断突变可增加罹患乳腺癌的中度风险

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作者：Joseph Vijai, Sabine Topka, Danylo Villano, Vignesh Ravichandran, Kara N Maxwell, Ann Maria, Tinu Thomas, Pragna Gaddam, Anne Lincoln, Sarah Kazzaz, Brandon Wenz, Shai Carmi, Kasmintan A Schrader, Steven N Hart, Steve M Lipkin, Susan L Neuhausen, Michael F Walsh, Liying Zhang, Flavio Lejbkowicz, Hed

期刊：

Cancer Discovery

影响因子：

29.700

时间：

2016

起止号：

2016 Nov;6(11):1267-1275.

doi：

10.1158/2159-8290.CD-16-0487

研究方向：

肿瘤

疾病类型：

乳腺癌

Significance

A functionally significant recurrent ERCC3 mutation increased the risk for breast cancer in a genetic isolate. Mutated cell lines showed lower survival after in vitro exposure to DNA-damaging agents. Thus, similar to tumors arising in the background of homologous repair defects, mutations in nucleotide excision repair genes such as ERCC3 could constitute potential therapeutic targets in a subset of hereditary breast cancers. Cancer Discov; 6(11); 1267-75. ©2016 AACR.This article is highlighted in the In This Issue feature, p. 1197.

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