Associated Papers
Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
Kluk A et al.
International Journal of Molecular Sciences, 2026
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
Mutational Analysis of Early, Low-Grade Bowel Polyps Defines a Subgroup with Concurrent, High-Risk Oncogenic Drivers Independent of Polyp Size.
Li J et al.
Cancer Research Communications, 2025
POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.
Nero C et al.
Cancer, 2025
Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma.
Bülbül G et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2024
Genomic Landscape of Endometrial, Ovarian, and Cervical Cancers in Japan from the Database in the Center for Cancer Genomics and Advanced Therapeutics.
Xi Q 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
A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report.
Cui J et al.
Diagnostic Pathology, 2023
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.
Berrino E et al.
Npj Precision Oncology, 2022
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A et al.
Human Mutation, 2022
Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.
Jiang M et al.
Frontiers in Genetics, 2022
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
Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
Galati MA et al.
Cancer Research, 2020
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
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
Homologous Recombination Repair Truncations Predict Hypermutation in Microsatellite Stable Colorectal and Endometrial Tumors.
Lee M et al.
Clinical and Translational Gastroenterology, 2020
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
Castellsagué E et al.
Human Mutation, 2019