Familial colorectal cancer

被引：16
作者：
Lung, M. S. [1 ]
Trainer, A. H. [1 ,2 ,3 ]
Campbell, I. [1 ]
Lipton, L. [3 ]
机构：
[1] Peter MacCallum Canc Ctr, Res Div, Melbourne, Vic, Australia
[2] Peter MacCallum Canc Ctr, Familial Canc Ctr, Melbourne, Vic, Australia
[3] Royal Melbourne Hosp, Familial Canc Ctr, Melbourne, Vic, Australia
来源：
INTERNAL MEDICINE JOURNAL | 2015年 / 45卷 / 05期
关键词：
colorectal neoplasm; adenomatous polyposis coli; hereditary nonpolyposis; neoplastic syndrome; hereditary; REPAIR-DEFICIENCY SYNDROME; BASE-EXCISION-REPAIR; GERM-LINE MUTATIONS; LYNCH-SYNDROME; ADENOMATOUS POLYPOSIS; MISMATCH REPAIR; MICROSATELLITE INSTABILITY; PHENOTYPIC-EXPRESSION; BETHESDA GUIDELINES; CLINICAL MANAGEMENT;
D O I：
10.1111/imj.12736
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Identifying individuals with a genetic predisposition to developing familial colorectal cancer (CRC) is crucial to the management of the affected individual and their family. In order to do so, the physician requires an understanding of the different gene mutations and clinical manifestations of familial CRC. This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome. An individual suspected of having a familial CRC with an underlying genetic predisposition should be referred to a familial cancer centre to enable pre-test counselling and appropriate follow up.
引用
收藏
页码：482 / 491
页数：10
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