Associated Papers
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.
Tomkova M et al.
Nature Genetics, 2024
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome.
Zhang Y et al.
Frontiers in Oncology, 2023
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.
Ying J et al.
Journal for Immunotherapy of Cancer, 2021
Pedigree analysis of a POLD1 germline mutation in urothelial carcinoma shows a close association between different mutation burdens and overall survival.
Wang Y et al.
Cellular & Molecular Immunology, 2021
The POLD1R689W variant increases the sensitivity of colorectal cancer cells to ATR and CHK1 inhibitors.
Job A et al.
Scientific Reports, 2020
The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.
Ito T et al.
Japanese Journal of Clinical Oncology, 2020
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
Oh DY et al.
Human Mutation, 2020
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Esteban-Jurado C et al.
Oncotarget, 2017
Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.
Mertz TM et al.
Genes, 2017
A panoply of errors: polymerase proofreading domain mutations in cancer.
Rayner E et al.
Nature Reviews. Cancer, 2016
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel D et al.
Human Mutation, 2015
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier I et al.
International Journal of Cancer, 2015
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015
Hereditary colorectal cancer syndromes and genetic testing.
Macaron C et al.
Journal of Surgical Oncology, 2015
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Valle L et al.
Human Molecular Genetics, 2014
Replicative DNA polymerase mutations in cancer.
Heitzer E et al.
Current Opinion in Genetics & Development, 2014
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN et al.
Nature Genetics, 2013
Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.
Briggs S et al.
The Journal of Pathology, 2013
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C et al.
Nature Genetics, 2013