Associated Papers
Successful Identification and Treatment of Cancer of Unknown Primary Originating From Gastric Cancer Using Comprehensive Genomic Profiling and Immune Checkpoint Inhibitor Therapy: A Case Report.
Sasaki T et al.
Cancer Reports (hoboken, N.j.), 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study.
Yeh JT et al.
Cancers, 2024
Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.
Zhang J et al.
Journal of Cancer Research and Clinical Oncology, 2023
Lung adenocarcinoma in a patient with Lynch syndrome: a case report and literature review.
Hodges A et al.
Frontiers in Oncology, 2023
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
Mahdouani M et al.
Plos One, 2022
A rare large duplication of MLH1 identified in Lynch syndrome.
Kumar A et al.
Hereditary Cancer in Clinical Practice, 2021
Role of Tumor Mutation Burden Analysis in Detecting Lynch Syndrome in Precision Medicine: Analysis of 2,501 Japanese Cancer Patients.
Kiyozumi Y et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.
Chen W et al.
Human Pathology, 2020
Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.
Álvarez K et al.
Journal of Clinical Medicine, 2020
Validation of an in Vitro Mismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants.
González-Acosta M et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.
Zaib T et al.
Disease Markers, 2020
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.
Rashid MU et al.
Hereditary Cancer in Clinical Practice, 2019
Evaluation of MLH1 variants of unclear significance.
Köger N et al.
Genes, Chromosomes & Cancer, 2018
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel H et al.
Jama Oncology, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Drug-sensitive FGFR3 mutations in lung adenocarcinoma.
Chandrani P et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
Hinrichsen I et al.
Carcinogenesis, 2015
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2013
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
Hinrichsen I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
In silico analysis of missense substitutions using sequence-alignment based methods.
Tavtigian SV et al.
Human Mutation, 2008
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson RA et al.
Human Mutation, 2008
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
Wanat JJ et al.
Human Molecular Genetics, 2007
Some aspects of molecular diagnostics in Lynch syndrome.
Kurzawski G
Hereditary Cancer in Clinical Practice, 2006
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
Barnetson RA et al.
The New England Journal of Medicine, 2006
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G et al.
Clinical Genetics, 2006
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE et al.
Gastroenterology, 2005
hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.
Vo AT et al.
Embo Reports, 2005
Cancer risk in 348 French MSH2 or MLH1 gene carriers.
Parc Y et al.
Journal of Medical Genetics, 2003
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G et al.
Journal of Medical Genetics, 2002
Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
Kurzawski G et al.
Journal of Biochemical and Biophysical Methods, 2002
The interaction of DNA mismatch repair proteins with human exonuclease I.
Schmutte C et al.
The Journal of Biological Chemistry, 2001
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
Kondo E et al.
Nucleic Acids Research, 2001
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.
Jakubowska A et al.
Human Mutation, 2001
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
Guerrette S et al.
The Journal of Biological Chemistry, 1999
Human exonuclease I interacts with the mismatch repair protein hMSH2.
Schmutte C et al.
Cancer Research, 1998
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
Shimodaira H et al.
Nature Genetics, 1998
Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men.
Heise M et al.
Cancer Control : Journal of the Moffitt Cancer Center, 0