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遗传性结直肠癌易感性:迈向更全面的认知

Inherited predisposition to colorectal cancer: towards a more complete picture.

作者信息

Short Emma, Thomas Laura E, Hurley Joanna, Jose Sian, Sampson Julian R

机构信息

Institute of Cancer and Genetics, Cardiff University, Heath Park Campus, Cardiff, UK.

Department of Gastroenterology, Cwm Taf University Health Board, Prince Charles Hospital, Merthyr Tydfil, UK.

出版信息

J Med Genet. 2015 Dec;52(12):791-6. doi: 10.1136/jmedgenet-2015-103298. Epub 2015 Aug 21.

Abstract

Colorectal carcinoma (CRC) is the third most common cancer worldwide. Hereditary factors are important in 15%-35% of affected patients. This review provides an update on the genetic basis of inherited predisposition to CRC. Currently known genetic factors include a group of highly penetrant mutant genes associated with rare mendelian cancer syndromes and a group of common low-penetrance alleles that have been identified through genetic association studies. Additional mechanisms, which may underlie a predisposition to CRC, will be outlined, for example, variants in intermediate penetrance alleles. Recent findings, including mutations in POLE, POLD1 and NTHL1, will be highlighted, and we identify gaps in present knowledge and consider how these may be addressed through current and emerging genomic approaches. It is expected that identification of the missing heritable component of CRC will be resolved through evermore comprehensive cataloguing and phenotypic annotation of CRC-associated variants identified through sequencing approaches. This will have important clinical implications, particularly in areas such as risk stratification, public health and CRC prevention.

摘要

结直肠癌(CRC)是全球第三大常见癌症。遗传因素在15% - 35%的患病人群中起着重要作用。本综述提供了结直肠癌遗传易感性的遗传基础的最新信息。目前已知的遗传因素包括一组与罕见孟德尔癌症综合征相关的高 penetrance 突变基因,以及通过遗传关联研究确定的一组常见低 penetrance 等位基因。将概述可能是结直肠癌易感性基础的其他机制,例如中间 penetrance 等位基因中的变异。将重点介绍近期的发现,包括POLE、POLD1和NTHL1中的突变,我们还将找出当前知识中的空白,并考虑如何通过当前和新兴的基因组方法来解决这些问题。预计通过对通过测序方法鉴定的结直肠癌相关变异进行更全面的编目和表型注释,将解决结直肠癌缺失的可遗传成分的鉴定问题。这将具有重要的临床意义,特别是在风险分层、公共卫生和结直肠癌预防等领域。

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