Article
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
British journal of cancer - 7 Dec 2010
Theodoratou E, Campbell H, Tenesa A, Houlston R, Webb E, Lubbe S, Broderick P, Gallinger S, Croitoru E M, Jenkins M A, Win A K, Cleary S P, Koessler T, Pharoah P D, Küry S, Bézieau S, Buecher B, Ellis N A, Peterlongo P, Offit K, Aaltonen L A, Enholm S, Lindblom A, Zhou X-L, Tomlinson I P, Moreno V, Blanco I, Capellà G, Barnetson R, Porteous M E, Dunlop M G, Farrington S M
Abstract excerpt
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...
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