Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency
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Title
Constitutional
POLE
variants causing a phenotype reminiscent of constitutional mismatch repair deficiency
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 43, Issue 1, Pages 85-96
Publisher
Wiley
Online
2021-11-24
DOI
10.1002/humu.24299
References
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Note: Only part of the references are listed.- The repertoire of mutational signatures in human cancer
- (2020) Ludmil B. Alexandrov et al. NATURE
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- (2020) Juan A. Perez-Valencia et al. GENETICS IN MEDICINE
- Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
- (2020) Salma Shickh et al. JOURNAL OF MEDICAL GENETICS
- POLE Mutation Spectra Are Shaped by the Mutant Allele Identity, Its Abundance, and Mismatch Repair Status
- (2020) Karl P. Hodel et al. MOLECULAR CELL
- Cancers from novel Pole mutant mouse models provide insights into polymerase-mediated hypermutagenesis and immune checkpoint blockade
- (2020) Melissa A. Galati et al. CANCER RESEARCH
- Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue
- (2019) Andrew Y. Shuen et al. JOURNAL OF CLINICAL ONCOLOGY
- A recurrent cancer-associated substitution in DNA polymerase ε produces a hyperactive enzyme
- (2019) Xuanxuan Xing et al. Nature Communications
- A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
- (2019) Richard Gallon et al. HUMAN MUTATION
- The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis
- (2019) N. A. J. Ryan et al. GENETICS IN MEDICINE
- Interpretation of somatic POLE mutations in endometrial carcinoma
- (2019) Alicia León‐Castillo et al. JOURNAL OF PATHOLOGY
- The landscape of genomic alterations across childhood cancers
- (2018) Susanne N. Gröbner et al. NATURE
- Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
- (2018) N. J. Haradhvala et al. Nature Communications
- Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae
- (2018) Stephanie R. Barbari et al. G3-Genes Genomes Genetics
- MutationalPatterns: comprehensive genome-wide analysis of mutational processes
- (2018) Francis Blokzijl et al. Genome Medicine
- Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair
- (2018) Karl P Hodel et al. eLife
- Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome
- (2018) S.I. Shiran et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas
- (2018) Guy Rosner et al. DISEASES OF THE COLON & RECTUM
- Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma
- (2018) P. Vande Perre et al. Familial Cancer
- Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
- (2017) Carol Durno et al. GASTROENTEROLOGY
- Comprehensive Genomic Profiling of 282 Pediatric Low‐ and High‐Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures
- (2017) Adrienne Johnson et al. ONCOLOGIST
- A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
- (2016) Katharina Wimmer et al. Familial Cancer
- Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency
- (2016) Eric Bouffet et al. JOURNAL OF CLINICAL ONCOLOGY
- DNA Replication—A Matter of Fidelity
- (2016) Rais A. Ganai et al. MOLECULAR CELL
- Unified representation of genetic variants
- (2015) Adrian Tan et al. BIOINFORMATICS
- Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
- (2015) Isabel Spier et al. INTERNATIONAL JOURNAL OF CANCER
- Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
- (2015) Adam Shlien et al. NATURE GENETICS
- SomaticPOLEmutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis
- (2015) E. Zeynep Erson-Omay et al. NEURO-ONCOLOGY
- Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication
- (2014) Eve Shinbrot et al. GENOME RESEARCH
- Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
- (2014) Katharina Wimmer et al. JOURNAL OF MEDICAL GENETICS
- Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
- (2014) H F A Vasen et al. JOURNAL OF MEDICAL GENETICS
- Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer
- (2014) David N. Church et al. JNCI-Journal of the National Cancer Institute
- DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer
- (2013) David N. Church et al. HUMAN MOLECULAR GENETICS
- Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome
- (2013) Danielle Ingham et al. HUMAN MUTATION
- Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers
- (2013) Sarah Briggs et al. JOURNAL OF PATHOLOGY
- Integrated genomic characterization of endometrial carcinoma
- (2013) Gad Getz et al. NATURE
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- (2013) Ludmil B. Alexandrov et al. NATURE
- Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
- (2012) Claire Palles et al. NATURE GENETICS
- Microsatellite instability in colorectal cancer—the stable evidence
- (2010) Eduardo Vilar et al. Nature Reviews Clinical Oncology
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
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