about
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityCalibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.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.Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Microsatellite instability use in mismatch repair gene sequence variant classificationMutation deep within an intron of MSH2 causes Lynch syndrome.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.Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients.The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.Reply to J. Moline et al
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Bryony A Thompson
@ast
Bryony A Thompson
@en
Bryony A Thompson
@es
Bryony A Thompson
@nl
type
label
Bryony A Thompson
@ast
Bryony A Thompson
@en
Bryony A Thompson
@es
Bryony A Thompson
@nl
prefLabel
Bryony A Thompson
@ast
Bryony A Thompson
@en
Bryony A Thompson
@es
Bryony A Thompson
@nl
P106
P31
P496
0000-0001-8655-1839