Associated Papers
Germline variants in CDKN2A wild-type melanoma prone families.
Iversen GT et al.
Molecular Oncology, 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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Somatic and germline mutations in endometrial cancer.
Botea R et al.
Journal of Medicine and Life, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma.
Gomez F et al.
Cancer Research Communications, 2023
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
Pan S et al.
Frontiers in Oncology, 2023
Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms.
Bosch DE et al.
Jco Precision Oncology, 2022
Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.
Csoma SL et al.
Cancers, 2022
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.
Singh P et al.
Nature Communications, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA et al.
Familial Cancer, 2020
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
Nikitin AG et al.
Frontiers in Oncology, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
Bush L et al.
Familial Cancer, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
Raskin L et al.
Oncotarget, 2017
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Cheng DT et al.
Bmc Medical Genomics, 2017
Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
Duraturo F et al.
International Journal of Molecular Medicine, 2015
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Wimmer K et al.
Journal of Medical Genetics, 2014
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA et al.
Human Mutation, 2013
Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer--the DNA microarray assay.
Stojcev Z et al.
Acta Biochimica Polonica, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
Limburg PJ et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2011
Consideration of hereditary nonpolyposis colorectal cancer in BRCA mutation-negative familial ovarian cancers.
South SA et al.
Cancer, 2009
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
Calva-Cerqueira D et al.
Clinical Genetics, 2009
Constitutive deficiency in DNA mismatch repair.
Felton KE et al.
Clinical Genetics, 2007
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Some aspects of molecular diagnostics in Lynch syndrome.
Kurzawski G
Hereditary Cancer in Clinical Practice, 2006
Epistatic interactions: how strong in disease and evolution?
Azevedo L et al.
Trends in Genetics : Tig, 2006
[Chimpanzee genome sequencing and comparative analysis with the human genome].
Watanabe H et al.
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2006
Comparative analysis of cancer genes in the human and chimpanzee genomes.
Puente XS et al.
Bmc Genomics, 2006
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G et al.
Clinical Genetics, 2006
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
Lucci-Cordisco E et al.
Cancer Biomarkers : Section a of Disease Markers, 2006
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
Ostergaard JR et al.
American Journal of Medical Genetics. Part A, 2005
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
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
Cunningham JM et al.
American Journal of Human Genetics, 2001
Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening.
Potocnik U et al.
Cancer Genetics and Cytogenetics, 2001
Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma.
Borg A et al.
International Journal of Cancer, 2000