Variant: rs397514632 

    present in Gene: POLD1
    present in Chromosome: 19
    Position on Chromosome: 50406456
    Alleles of this Variant: G/A

rs397514632 in POLD1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 26344056 2015 Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

PMID 24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

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

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.