Associated Papers
Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.
Viana-Errasti J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures.
Buchanan DD et al.
Familial Cancer, 2025
Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.
Lim S et al.
Annals of Laboratory Medicine, 2025
Beyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancer.
Chen H et al.
Frontiers in Immunology, 2025
Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.
Folletet A et al.
Frontiers in Oncology, 2025
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.
Tomkova M et al.
Nature Genetics, 2024
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Andrianova MA et al.
European Journal of Human Genetics : Ejhg, 2024
POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab.
Wei CH et al.
Cancers, 2023
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
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E et al.
Biomolecules, 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS et al.
Nature Genetics, 2021
Role of POLE and POLD1 in familial cancer.
Mur P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M et al.
Journal of Medical Genetics, 2020
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.
Zhang J et al.
Dna and Cell Biology, 2020
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L et al.
Molecular Aspects of Medicine, 2019
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Plevová P
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
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
Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency.
Bourdais R et al.
Critical Reviews in Oncology/hematology, 2017
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Esteban-Jurado C et al.
Oncotarget, 2017
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Wimmer K et al.
Familial Cancer, 2017
Genetic Testing for Polyposis Syndromes.
Pyrtel K
Clinics in Colon and Rectal Surgery, 2016
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.
Bellido F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
A panoply of errors: polymerase proofreading domain mutations in cancer.
Rayner E et al.
Nature Reviews. Cancer, 2016
[Hereditary nonpolyposis colorectal cancer].
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009
[Familial adenomatous polyposis].
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009
[Von Hippel-Lindau disease].
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009
[Cowden syndrome].
Puchmajerová A et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009