Variant: rs398122515

present in Gene: POLE present in Chromosome: 12 Position on Chromosome: 132643404 Alleles of this Variant: T/C

rs398122515 in POLE gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 23447401 2013 Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.