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

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

Publication Type:

Journal Article

Authors:

Theodoratou, E; Campbell, H; Tenesa, A; Houlston, R; Webb, E; Lubbe, S; Broderick, P; Gallinger, S; Croitoru, EM; Jenkins, MA; Win, AK; Cleary, SP; Koessler, T; Pharoah, PD; Küry, S; Bézieau, S; Buecher, B; Ellis, NA; Peterlongo, P; Offit, K; Aaltonen, LA; Enholm, S; Lindblom, A; Zhou, XL; Tomlinson, IP; Moreno, V; Blanco, I; Capellà, G; Barnetson, R; Porteous, ME; Dunlop, MG; Farrington, SM

Source:

British journal of cancer, Volume 103, Issue 12, p.1875-84 (2010)

URL:

http://dx.doi.org/10.1038/sj.bjc.6605966

Abstract:

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 age and sex influence on risk.


Pubmed ID: 21063410