Familial adenomatous polyposis

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...

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Bibliographic Details
Published in:	Baillière's best practice & research. Clinical gastroenterology Vol. 23; no. 2; pp. 197 - 207
Main Authors:	Macrae, Finlay, MBBS (Hons1), MD, FRACP, FRCP (UK), AGAF, du Sart, D, Nasioulas, S
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier Ltd 01-04-2009 Elsevier Limited
Subjects:	Adenomatous Polyposis Coli - diagnosis Adenomatous Polyposis Coli - genetics APC gene Colorectal cancer DNA Glycosylases - genetics DNA Mutational Analysis familial adenomatous polyposis Gastroenterology and Hepatology Gene Expression Regulation, Neoplastic Genes Genes, APC genetic counselling Genetic Predisposition to Disease Genetic Testing Human Genome Project Humans Mosaicism Mutation mutational analysis MYH gene Predictive Value of Tests Tumors Vegetables genetic counselling familial adenomatous polyposis MYH gene APC gene mutational analysis
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Summary:	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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	1521-6918 1532-1916
DOI:	10.1016/j.bpg.2009.02.010