Primary Site >> Colorectal Cancer
Gene >> POLD1
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Ref: Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1. PMID: 14767555 |
Ref: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. PMID: 23263490 Ref: The burden of faulty proofreading in colon cancer. PMID: 23358219 Ref: DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer. PMID: 23528559 |
Ref: Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. PMID: 24253443 Ref: New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. PMID: 24501277 Ref: Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition. PMID: 24509466 Ref: New genes emerging for colorectal cancer predisposition. PMID: 24587672 Ref: Genetics of endometrial cancer. PMID: 24838932 |
Ref: Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. PMID: 25110875 Ref: Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. PMID: 25370038 Ref: Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. PMID: 25529843 Ref: Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. PMID: 25559809 Ref: Colon cancer-associated mutator DNA polymerase delta variant causes expansion of dNTP pools increasing its own infidelity. PMID: 25827231 Ref: The Mendelian colorectal cancer syndromes. PMID: 26169059 Ref: Inherited predisposition to colorectal cancer: towards a more complete picture. PMID: 26297796 |
Ref: POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. PMID: 26133394 Ref: Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. PMID: 26613750 Ref: Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas. PMID: 26748215 Ref: A synthetic lethal screen identifies ATR-inhibition as a novel therapeutic approach for POLD1-deficient cancers. PMID: 26755646 Ref: Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. PMID: 27476653 Ref: Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. PMID: 27705013 |
Ref: Characterization of a novel POLD1 missense founder mutation in a Spanish population. PMID: 28306219 Ref: Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase delta mutation in human cells. PMID: 28368425 Ref: POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. PMID: 28423643 Ref: Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency. PMID: 28427513 Ref: Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). PMID: 28521875 Ref: Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. PMID: 28533537 Ref: Detection of Allelic Variants of the POLE and POLD1 Genes in Colorectal Cancer Patients. PMID: 29876237 Ref: Exceptional Chemotherapy Response in Metastatic Colorectal Cancer Associated With Hyper-Indel-Hypermutated Cancer Genome and Comutation of POLD1 and MLH1. PMID: 30009279 |
Ref: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. PMID: 29120461 Ref: Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. PMID: 29388942 Ref: Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. PMID: 29406563 Ref: POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas. PMID: 30086056 |