Associated Papers
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
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
34479923 (PubMed )
Supplement: jitc-2021-002336supp003.xlsx › Sheet1
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
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
29604063 (PubMed )
Supplement: PATH-245-283-s021.xlsx › EC.Drivers.Edited
Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.
Mertz TM et al.
Genes, 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
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
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