Variant: rs1057517765

present in Gene: MUTYH present in Chromosome: 1 Position on Chromosome: 45332466 Alleles of this Variant: T/C;G

rs1057517765 in MUTYH gene and Colorectal Adenomatous Polyposis, Autosomal Recessive PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 18515411 2008 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.