Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome

Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing

(2018) Marie Lorans et al.   Clinical Colorectal Cancer

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

(2018) Maegan E Roberts et al.   GENETICS IN MEDICINE

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

(2018) Sagar J. Pathak et al.   HUMAN MUTATION

Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation

(2017) Tristan Snowsill et al.   HEALTH TECHNOLOGY ASSESSMENT

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

(2017) Carin R. Espenschied et al.   JOURNAL OF CLINICAL ONCOLOGY

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

(2017) Matthew B. Yurgelun et al.   JOURNAL OF CLINICAL ONCOLOGY

DNA mismatch repair and its many roles in eukaryotic cells

(2017) Dekang Liu et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Tumor Mutational Burden and Response Rate to PD-1 Inhibition

(2017) Mark Yarchoan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade

(2017) Dung T. Le et al.   SCIENCE

Schizosaccharomyces pombe MutSα and MutLα Maintain Stability of Tetra-Nucleotide Repeats and Msh3 of Hepta-Nucleotide Repeats

(2017) Desirée Villahermosa et al.   G3-Genes Genomes Genetics

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

(2017) Zachary R. Chalmers et al.   Genome Medicine

Involvement of DNA mismatch repair in the maintenance of heterochromatic DNA stability in Saccharomyces cerevisiae

(2017) Basanta K. Dahal et al.   PLoS Genetics

Mechanisms inE. coliand Human Mismatch Repair (Nobel Lecture)

(2016) Paul Modrich   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Microsatellite Instability as a Biomarker for PD-1 Blockade

(2016) J. C. Dudley et al.   CLINICAL CANCER RESEARCH

The conserved molecular machinery in DNA mismatch repair enzyme structures

(2016) Flora S. Groothuizen et al.   DNA REPAIR

Endonuclease activities of MutLα and its homologs in DNA mismatch repair

(2016) Lyudmila Y. Kadyrova et al.   DNA REPAIR

Mismatch binding, ADP–ATP exchange and intramolecular signaling during mismatch repair

(2016) Manju M. Hingorani   DNA REPAIR

Protein-protein interactions in DNA mismatch repair

(2016) Peter Friedhoff et al.   DNA REPAIR

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

Update on Lynch syndrome genomics

(2016) Päivi Peltomäki   Familial Cancer

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

(2016) Kristina Lagerstedt-Robinson et al.   ONCOLOGY REPORTS

Dynamic control of strand excision during human DNA mismatch repair

(2016) Yongmoon Jeon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

(2015) Sapna Syngal et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

EpCAM and the biology of hepatic stem/progenitor cells

(2015) Laurent Dollé et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Eukaryotic Mismatch Repair in Relation to DNA Replication

(2015) Thomas A. Kunkel et al.   Annual Review of Genetics

Mismatch Repair

(2015) Richard Fishel   JOURNAL OF BIOLOGICAL CHEMISTRY

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

(2015) Carlos J. Gallego et al.   JOURNAL OF CLINICAL ONCOLOGY

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

(2015) N Lavoine et al.   JOURNAL OF MEDICAL GENETICS

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

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

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

EMAST is a Form of Microsatellite Instability That is Initiated by Inflammation and Modulates Colorectal Cancer Progression

(2015) John Carethers et al.   Genes

Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

(2014) Francis M Giardiello et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Prevalence and implications of elevated microsatellite alterations at selected tetranucleotides in cancer

(2014) M M C Watson et al.   BRITISH JOURNAL OF CANCER

Single-molecule views of MutS on mismatched DNA

(2014) Jong-Bong Lee et al.   DNA REPAIR

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

Genetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma

(2014) Alexandra Snyder et al.   NEW ENGLAND JOURNAL OF MEDICINE

BRAF V600E Mutation Analysis Simplifies the Testing Algorithm for Lynch Syndrome

(2013) Ming Jin et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

(2013) J. P. Plazzer et al.   Familial Cancer

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Safety, Activity, and Immune Correlates of Anti–PD-1 Antibody in Cancer

(2012) Suzanne L. Topalian et al.   NEW ENGLAND JOURNAL OF MEDICINE

MSH3-Deficiency Initiates EMAST without Oncogenic Transformation of Human Colon Epithelial Cells

(2012) Christoph Campregher et al.   PLoS One

Oxidative Stress Induces Nuclear-to-Cytosol Shift of hMSH3, a Potential Mechanism for EMAST in Colorectal Cancer Cells

(2012) Stephanie S. Tseng-Rogenski et al.   PLoS One

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Therapeutic Targeting of the DNA Mismatch Repair Pathway

(2010) S. A. Martin et al.   CLINICAL CANCER RESEARCH

Microsatellite Instability in Colorectal Cancer

(2010) C. Richard Boland et al.   GASTROENTEROLOGY

MutLα and Proliferating Cell Nuclear Antigen Share Binding Sites on MutSβ

(2010) Ravi R. Iyer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PCNA function in the activation and strand direction of MutL  endonuclease in mismatch repair

(2010) A. Pluciennik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

(2009)   GENETICS IN MEDICINE

Deletions removing the last exon ofTACSTD1constitute a distinct class of mutations predisposing to Lynch syndrome

(2009) Marietta E. Kovacs et al.   HUMAN MUTATION

Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

(2008) Mamata Sivagnanam et al.   GASTROENTEROLOGY

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS