Associated Papers
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
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
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.
Zhang L et al.
Molecular Oncology, 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
Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.
Golubicki M et al.
Cancers, 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
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 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