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A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

Abstract:

Background: Defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated polyposis and CRC predisposition as an autosomal recessive trait. Numerous reports have suggested MUTYH mono-allelic variants to be low penetrance risk alleles. We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic and mono-allelic MUTYH variants and investigate a...

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Publisher copy:
10.1038/sj.bjc.6605966

Authors


Theodoratou, E More by this author
Campbell, H More by this author
Houlston, R More by this author
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Journal:
British Journal of Cancer
Volume:
103
Issue:
12
Pages:
1875-1884
Publication date:
2010-12-07
DOI:
EISSN:
1532-1827
ISSN:
0007-0920
URN:
uuid:849728c5-e8e5-4799-a17a-dc18f1c565c1
Source identifiers:
107211
Local pid:
pubs:107211

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