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The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.

Abstract:

We summarize the genetic and clinical features of the colorectal adenomas and cancers that occur in MYH-associated polyposis (MAP). MAP results from biallelic germline mutations in the base excision repair gene, mutY homologue (MYH). MAP has a phenotype that is often indistinguishable from classical or attenuated familial adenomatous polyposis (FAP), but the former is inherited as a recessive condition, whereas the latter is a dominantly inherited disease caused by germline mutations of the A...

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Journal:
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Volume:
2
Issue:
8
Pages:
633-638
Publication date:
2004-08-05
DOI:
EISSN:
1542-7714
ISSN:
1542-3565
URN:
uuid:32e4a1b5-82ca-40a5-8174-8cf2d0feba88
Source identifiers:
72037
Local pid:
pubs:72037

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