Hereditary breast and ovarian cancer: new genes in confined pathways

被引：258
作者：
Nielsen, Finn Cilius [1 ]
Hansen, Thomas van Overeem [1 ]
Sorensen, Claus Storgaard [2 ]
机构：
[1] Univ Copenhagen, Rigshosp, Ctr Genom Med, DK-2100 Copenhagen, Denmark
[2] Univ Copenhagen, Biotech Res & Innovat Ctr, DK-2200 Copenhagen, Denmark
来源：
NATURE REVIEWS CANCER | 2016年 / 16卷 / 09期
基金：
英国医学研究理事会;
关键词：
HOMOLOGY-DIRECTED REPAIR; ATM-DEPENDENT PHOSPHORYLATION; CDH1 GERMLINE MUTATIONS; DNA-DAMAGE RESPONSE; FANCONI-ANEMIA; GENOMIC INSTABILITY; FUNCTIONAL-ANALYSIS; INCREASED RISK; SUSCEPTIBILITY GENE; TUMOR-SUPPRESSOR;
D O I：
10.1038/nrc.2016.72
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making.
引用
收藏
页码：599 / 612
页数：14
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