Associated Papers
AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer.
Yazaki S et al.
Jco Precision Oncology, 2025
A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report.
Li Y 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
Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer.
Ambrosini M et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
Efficacy of Nivolumab in Pediatric Cancers with High Mutation Burden and Mismatch Repair Deficiency.
Das A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Onishi S et al.
Bmc Medical Genomics, 2023
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A et al.
Human Mutation, 2022
POLE proofreading defects: Contributions to mutagenesis and cancer.
Park VS et al.
Dna Repair, 2019
Tumor Mutational Burden Guides Therapy in a Treatment Refractory POLE-Mutant Uterine Carcinosarcoma.
Bhangoo MS et al.
The Oncologist, 2018
Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair.
Hodel KP et al.
Elife, 2018
Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.
Bouffet E et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Shlien A et al.
Nature Genetics, 2015