Variant: rs483352909 

    present in Gene: POLE
    present in Chromosome: 12
    Position on Chromosome: 132673664
    Alleles of this Variant: G/A;C

rs483352909 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 24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

PMID 16699561 2006 A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

PMID 27573199 2017 A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

PMID 27683556 2016 Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy.

PMID 25529843 2015 Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.

PMID 25860647 2015 A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.

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

PMID 12424237 2003 Okazaki fragment maturation in yeast. II. Cooperation between the polymerase and 3'-5'-exonuclease activities of Pol delta in the creation of a ligatable nick.

rs483352909 in POLE gene and Neoplastic Syndromes, Hereditary PMID 8679562 1996 Crystal structures of an NH2-terminal fragment of T4 DNA polymerase and its complexes with single-stranded DNA and with divalent metal ions.

PMID 25529843 2015 Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.

PMID 16699561 2006 A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

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

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

PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.