Genome-wide sequencing to identify the cause of hereditary cancer syndromes: With examples from familial pancreatic cancer

被引：18
|
作者：
Roberts, Nicholas J. [1 ]
Klein, Alison P. [2 ,3 ,4 ]
机构：
[1] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD 21231 USA
[2] Johns Hopkins Sch Med, Dept Oncol, Baltimore, MD 21231 USA
[3] Johns Hopkins Sch Med, Dept Pathol, Baltimore, MD 21231 USA
[4] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21231 USA
来源：
CANCER LETTERS | 2013年 / 340卷 / 02期
关键词：
Hereditary cancer; Genome sequencing; Cancer predisposition genes; BREAST-CANCER; BRCA2-INTERACTING PROTEIN; ATAXIA-TELANGIECTASIA; BRCA2; MUTATIONS; INCREASED RISK; ATM MUTATIONS; DNA-REPAIR; GENES; PALB2; MELANOMA;
D O I：
10.1016/j.canlet.2012.11.008
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Advances in our understanding of the human genome and next-generation technologies have facilitated the use of genome-wide sequencing to decipher the genetic basis of Mendelian disease and hereditary cancer syndromes. However, the application of genome-wide sequencing in hereditary cancer syndromes has had mixed success, in part, due to complex nature of the underlying genetic architecture. In this review we discuss the use of genome-wide sequencing in both Mendelian diseases and hereditary cancer syndromes, highlighting the potential and challenges of this approach using familial pancreatic cancer as an example. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码：227 / 233
页数：7
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