Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators
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Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyClassification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expressionGenetic evidence and integration of various data sources for classifying uncertain variants into a single model.Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significanceThe contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.Hereditary breast cancer: clinical, pathological and molecular characteristics.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityComprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.Characterization of BRCA1 ring finger variants of uncertain significanceSplicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencingENIGMA--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 genesA review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.In silico analysis of missense substitutions using sequence-alignment based methods.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer familiesBRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significanceA method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsBRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.Functional assays for analysis of variants of uncertain significance in BRCA2.Pathology of hereditary breast cancer.Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.Classifying variants of CDKN2A using computational and laboratory studies.Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.Stemming the tide of cancer for BRCA1/2 mutation carriers.BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.A Danish national effort of BRCA1/2 variant classification.
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Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators
description
article
@en
im April 2008 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2008
@uk
name
Clinical Classification ofBRCA ...... From the kConFab Investigators
@en
Clinical Classification ofBRCA ...... From the kConFab Investigators
@nl
type
label
Clinical Classification ofBRCA ...... From the kConFab Investigators
@en
Clinical Classification ofBRCA ...... From the kConFab Investigators
@nl
prefLabel
Clinical Classification ofBRCA ...... From the kConFab Investigators
@en
Clinical Classification ofBRCA ...... From the kConFab Investigators
@nl
P2093
P50
P356
P1476
Clinical Classification ofBRCA ...... From the kConFab Investigators
@en
P2093
David E. Goldgar
Davit Babikyan
Leonard M. Da Silva
Melissa A. Brown
Ross Brinkworth
Sean V. Tavtigian
Sue Healey
Suzanne Parry
P304
P356
10.1200/JCO.2007.13.2779
P407
P577
2008-04-01T00:00:00Z