Familial adenomatous polyposis

被引：12

作者：

Macrae, Finlay ^{[1
,2
]}

du Sart, D. ^{[3
]}

Nasioulas, S. ^{[3
]}

机构：

[1] Royal Melbourne Hosp, Dept Colorectal Med, Melbourne, Vic 3050, Australia

[2] Royal Melbourne Hosp, Genet & Familial Canc Clin, Melbourne, Vic 3050, Australia

[3] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia

来源：

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY | 2009年 / 23卷 / 02期

关键词：

familial adenomatous polyposis; APC gene; MYH gene; mutational analysis; genetic counselling; GERM-LINE MUTATIONS; PROTEIN TRUNCATION TEST; COLI APC GENE; INTERSTITIAL DELETION; MOLECULAR ANALYSIS; FAP; LOCUS; 5Q; IDENTIFICATION; MOSAICISM;

D O I：

10.1016/j.bpg.2009.02.010

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

A multimodal approach of complementary techniques targeting primarily truncating, deletion and rearrangement mutations provides a robust screening protocol that identifies the vast majority of pathogenic germline APC gene mutations in FAP patients. Patients in whom no mutation is identified through this mutation protocol, may be sub-cohorts representing a different FAP pathogenesis including MYH associated polyposis and somatic cell mosaicism for APC gene mutations. (C) 2009 Elsevier Ltd. All rights reserved.

引用

页码：197 / 207

页数：11

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