Associated Papers
The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients.
Assaf N et al.
Cancer Management and Research, 2025
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx
POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab.
Wei CH et al.
Cancers, 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
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.
Mur P et al.
European Journal of Human Genetics : Ejhg, 2022
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS et al.
Nature Genetics, 2021
34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_1
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test
Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
Laraqui A et al.
Journal of Genomics, 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
29120461 (PubMed )
Supplement: NIHMS909759-supplement-Supplementary___Appendix__online_only_material__etc__.docx
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
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