Associated Papers
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Leman R et al.
Bmc Genomics, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.
Liu J et al.
Journal of Cancer, 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
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Baert-Desurmont S et al.
European Journal of Human Genetics : Ejhg, 2018
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Dámaso E et al.
British Journal of Cancer, 2018
Germline mutation in the TP53 gene in uveal melanoma.
Hajkova N et al.
Scientific Reports, 2018
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM et al.
Human Mutation, 2014
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer.
Sun MZ et al.
International Journal of Clinical and Experimental Medicine, 2014
Genes and SNPs associated with non-hereditary and hereditary colorectal cancer.
Nassiri M et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2013
A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.
Hiljadnikova-Bajro M et al.
Croatian Medical Journal, 2012
DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer.
Dong X et al.
Molecular Carcinogenesis, 2012
MLH1 polymorphisms and cancer risk: a meta-analysis based on 33 case-control studies.
Xu JL et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2012
Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.
Vodusek AL et al.
Radiology and Oncology, 2011
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.
Pinheiro M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
DNA mismatch repair gene polymorphisms affect survival in pancreatic cancer.
Dong X et al.
The Oncologist, 2011
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
Mrkonjic M et al.
Plos One, 2010
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
Tang R et al.
Clinical Genetics, 2009
DNA repair polymorphisms and the risk of stomach adenocarcinoma and severe chronic gastritis in the EPIC-EURGAST study.
Capellá G et al.
International Journal of Epidemiology, 2008
Re: MLH1 93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
Hubner RA et al.
Journal of the National Cancer Institute, 2007
MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
Raptis S et al.
Journal of the National Cancer Institute, 2007
Identification of germline MLH1 alterations in familial prostate cancer.
Fredriksson H et al.
European Journal of Cancer (oxford, England : 1990), 2006
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Auclair J et al.
Human Mutation, 2006
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
Krüger S et al.
Human Mutation, 2004
Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma.
Hudler P et al.
Clinical Genetics, 2004
Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.
Krüger S et al.
Human Mutation, 2003
hMLH1 and hMSH2 somatic inactivation mechanisms in sporadic colorectal cancer patients.
Kámory E et al.
Pathology Oncology Research : Por, 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
Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.
Krüger S et al.
Human Mutation, 2002