Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics
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Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsPrevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiencyImproving identification of lynch syndrome patients: a comparison of research data with clinical records.Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.VariBench: a benchmark database for variations.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityAn intronic mutation in MLH1 associated with familial colon and breast cancer.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.Rare variants in the ATM gene and risk of breast cancerENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesAberrant methylation patterns in cancer: a clinical view.Pancreatic cancer and a novel MSH2 germline alteration.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.Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.Stroke-related translational research.Next generation sequencing and a new era of medicine.Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.A comparison of cosegregation analysis methods for the clinical setting.Screening of SLC26A4 gene in autoimmune thyroid diseases.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Classifying variants of CDKN2A using computational and laboratory studies.RNA splicing. The human splicing code reveals new insights into the genetic determinants of diseaseDeciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Comprehensive functional assessment of MLH1 variants of unknown significance.In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.Clarity and claims in variation/mutation databasing.Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.Curating gene variant databases (LSDBs): toward a universal standard
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Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Classifying MLH1 and MSH2 vari ...... ion, and tumor characteristics
@en
Classifying MLH1 and MSH2 vari ...... on, and tumor characteristics.
@nl
type
label
Classifying MLH1 and MSH2 vari ...... ion, and tumor characteristics
@en
Classifying MLH1 and MSH2 vari ...... on, and tumor characteristics.
@nl
prefLabel
Classifying MLH1 and MSH2 vari ...... ion, and tumor characteristics
@en
Classifying MLH1 and MSH2 vari ...... on, and tumor characteristics.
@nl
P2093
P2860
P50
P356
P1433
P1476
Classifying MLH1 and MSH2 vari ...... ion, and tumor characteristics
@en
P2093
David E Goldgar
Genevieve Birney
Joanne P Young
Lesley Jaskowski
Melissa Barker
Michael D Walsh
Michael O Woods
Sean V Tavtigian
Sven Arnold
P2860
P304
P356
10.1002/HUMU.20936
P577
2009-05-01T00:00:00Z