Beyond BRCA: New hereditary breast cancer susceptibility genes

被引：162

作者：

Economopoulou, P. ^{[1
]}

Dimitriadis, G. ^{[1
]}

Psyrri, A. ^{[1
]}

机构：

[1] Univ Athens, Attikon Univ Hosp, Dept Internal Med 2, Oncol Unit, Athens, Greece

来源：

CANCER TREATMENT REVIEWS | 2015年 / 41卷 / 01期

关键词：

Hereditary breast cancer; Breast cancer susceptibility genes; TP53; PTEN; PALB2; DIFFUSE GASTRIC-CANCER; LI-FRAUMENI SYNDROME; PEUTZ-JEGHERS-SYNDROME; GERMLINE MUTATIONS; OVARIAN-CANCER; COWDEN-DISEASE; EARLY-ONSET; BARD1; MUTATIONS; FANCONI-ANEMIA; LYNCH SYNDROME;

D O I：

10.1016/j.ctrv.2014.10.008

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Approximately 5-10% of breast cancer cases might be inheritable, up to 30% of which are due to BRCA1/2 mutations. During the past few years and thanks to technology evolution, we have been witnesses of an intensive search of additional genes with similar characteristics, under the premise that successful gene discovery will provide substantial opportunities for primary and secondary prevention of breast cancer. Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2. This review will summarize current data on new findings in breast cancer susceptibility genes. (C) 2014 Elsevier Ltd. All rights reserved.

引用

页码：1 / 8

页数：8

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