Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

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

Normally lethal amino acid substitutions suppress an ultramutator DNA Polymerase δ variant

(2017) Daniel G. Dennis et al.   Scientific Reports

Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair

(2016) Nicholas J. Haradhvala et al.   CELL

Regression of Chemotherapy-Resistant Polymerase   (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab

(2016) A. D. Santin et al.   CLINICAL CANCER RESEARCH

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency

(2016) Eric Bouffet et al.   JOURNAL OF CLINICAL ONCOLOGY

Rates and mechanisms of bacterial mutagenesis from maximum-depth sequencing

(2016) Justin Jee et al.   NATURE

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

(2016) Serena Nik-Zainal et al.   NATURE

Exploring the implications of distinct mutational signatures and mutation rates in aging and cancer

(2016) Edward J. Fox et al.   Genome Medicine

Comparison of the kinetic parameters of the truncated catalytic subunit and holoenzyme of human DNA polymerase ɛ

(2015) Walter J. Zahurancik et al.   DNA REPAIR

Differential DNA mismatch repair underlies mutation rate variation across the human genome

(2015) Fran Supek et al.   NATURE

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

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

(2015) Dung T. Le et al.   NEW ENGLAND JOURNAL OF MEDICINE

Colon cancer-associated mutator DNA polymerase δ variant causes expansion of dNTP pools increasing its own infidelity

(2015) Tony M. Mertz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

dNTP pool levels modulate mutator phenotypes of error-prone DNA polymerase ε variants

(2015) Lindsey N. Williams et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Volatility of Mutator Phenotypes at Single Cell Resolution

(2015) Scott R. Kennedy et al.   PLoS Genetics

Naphthalimides Induce G2 Arrest Through the ATM-Activated Chk2-Executed Pathway in HCT116 Cells

(2015) Hong Zhu et al.   NEOPLASIA

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

A Common Cancer-Associated DNA Polymerase   Mutation Causes an Exceptionally Strong Mutator Phenotype, Indicating Fidelity Defects Distinct from Loss of Proofreading

(2014) D. P. Kane et al.   CANCER RESEARCH

Replicative DNA polymerase mutations in cancer

(2014) Ellen Heitzer et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mutational signatures: the patterns of somatic mutations hidden in cancer genomes

(2014) Ludmil B Alexandrov et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition

(2014) Scott A. Lujan et al.   GENOME RESEARCH

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

(2014) Eve Shinbrot et al.   GENOME RESEARCH

DNA polymerase ε and its roles in genome stability

(2014) Erin E. Henninger et al.   IUBMB LIFE

Yeast DNA Polymerase ϵ Catalytic Core and Holoenzyme Have Comparable Catalytic Rates

(2014) Rais A. Ganai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Mechanisms underlying mutational signatures in human cancers

(2014) Thomas Helleday et al.   NATURE REVIEWS GENETICS

Silencing of the DNA Mismatch Repair Gene MLH1 Induced by Hypoxic Stress in a Pathway Dependent on the Histone Demethylase LSD1

(2014) Yuhong Lu et al.   Cell Reports

The Exomes of the NCI-60 Panel: A Genomic Resource for Cancer Biology and Systems Pharmacology

(2013) O. D. Abaan et al.   CANCER RESEARCH

Human Pol ɛ-dependent replication errors and the influence of mismatch repair on their correction

(2013) Anderson Ayuk Agbor et al.   DNA REPAIR

Emergence of DNA Polymerase   Antimutators That Escape Error-Induced Extinction in Yeast

(2013) L. N. Williams et al.   GENETICS

From human genome to cancer genome: The first decade

(2013) D. A. Wheeler et al.   GENOME RESEARCH

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

(2013) David N. Church et al.   HUMAN MOLECULAR GENETICS

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

Acidic tumor microenvironment downregulates hMLH1 but does not diminish 5-fluorouracil chemosensitivity

(2013) Moriya Iwaizumi et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

(2013) Steven A Roberts et al.   NATURE GENETICS

Rev3, the catalytic subunit of Polζ, is required for maintaining fragile site stability in human cells

(2013) Audesh Bhat et al.   NUCLEIC ACIDS RESEARCH

Expression of DNA Translesion Synthesis Polymerase η in Head and Neck Squamous Cell Cancer Predicts Resistance to Gemcitabine and Cisplatin-Based Chemotherapy

(2013) Wendi Zhou et al.   PLoS One

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

(2013) S. Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Postreplicative Mismatch Repair

(2013) J. Jiricny   Cold Spring Harbor Perspectives in Biology

Deciphering Signatures of Mutational Processes Operative in Human Cancer

(2013) Ludmil B. Alexandrov et al.   Cell Reports

Homologous recombination mediates S-phase-dependent radioresistance in cells deficient in DNA polymerase eta

(2012) Nils H. Nicolay et al.   CARCINOGENESIS

Tumor-specific microsatellite instability: Do distinct mechanisms underlie the MSI-L and EMAST phenotypes?

(2012) Suzanne E. Hile et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Rate and molecular spectrum of spontaneous mutations in the bacterium Escherichia coli as determined by whole-genome sequencing

(2012) H. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Contrasting Mutation Rates from Specific-Locus and Long-Term Mutation-Accumulation Procedures

(2012) John W. Drake   G3-Genes Genomes Genetics

Mismatch Repair Balances Leading and Lagging Strand DNA Replication Fidelity

(2012) Scott A. Lujan et al.   PLoS Genetics

Visualization of Eukaryotic DNA Mismatch Repair Reveals Distinct Recognition and Repair Intermediates

(2011) Hans Hombauer et al.   CELL

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Antimutator variants of DNA polymerases

(2011) Alan J. Herr et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Relationship between Gene Body DNA Methylation and Intragenic H3K9me3 and H3K36me3 Chromatin Marks

(2011) Maria A. Hahn et al.   PLoS One

Exploring the Genomes of Cancer Cells: Progress and Promise

(2011) M. R. Stratton   SCIENCE

Mutator Suppression and Escape from Replication Error–Induced Extinction in Yeast

(2011) Alan J. Herr et al.   PLoS Genetics

Defective Mismatch Repair, Microsatellite Mutation Bias, and Variability in Clinical Cancer Phenotypes

(2010) S. N. Shah et al.   CANCER RESEARCH

Microsatellite Instability in Colorectal Cancer

(2010) C. Richard Boland et al.   GASTROENTEROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Improved Survival with Ipilimumab in Patients with Metastatic Melanoma

(2010) F. Stephen Hodi et al.   NEW ENGLAND JOURNAL OF MEDICINE

The high fidelity and unique error signature of human DNA polymerase  

(2010) D. A. Korona et al.   NUCLEIC ACIDS RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Case Series

(2010) Piper M. Treuting et al.   TOXICOLOGIC PATHOLOGY

Mismatch Repair–Independent Increase in Spontaneous Mutagenesis in Yeast Lacking Non-Essential Subunits of DNA Polymerase ε

(2010) Anna Aksenova et al.   PLoS Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

DNA polymerase   and   proofreading suppress discrete mutator and cancer phenotypes in mice

(2009) T. M. Albertson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis

(2008) Guido Plotz et al.   INFLAMMATORY BOWEL DISEASES