Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
about
In silico tools for splicing defect prediction: a survey from the viewpoint of end usersComprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingAnalysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.Functional characterization of BRCA1 gene variants by mini-gene splicing assay.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicExonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutationAnalysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.From single splicing events to thousands: the ambiguous step forward in splicing research.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.RNA splicing: a new player in the DNA damage responseNext generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Estimating the prevalence of functional exonic splice regulatory information.BRCA Share: A Collection of Clinical BRCA Gene Variants.Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCRThe Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic DiseaseBRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Novel intronic RHD variants identified in serologically D-negative blood donors.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.
P2860
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P2860
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Contribution of bioinformatics ...... ied variants of the BRCA genes
@ast
Contribution of bioinformatics ...... ied variants of the BRCA genes
@en
type
label
Contribution of bioinformatics ...... ied variants of the BRCA genes
@ast
Contribution of bioinformatics ...... ied variants of the BRCA genes
@en
prefLabel
Contribution of bioinformatics ...... ied variants of the BRCA genes
@ast
Contribution of bioinformatics ...... ied variants of the BRCA genes
@en
P2093
P2860
P356
P1476
Contribution of bioinformatics ...... ied variants of the BRCA genes
@en
P2093
Agnès Hardouin
Alexandra Martins
Antoine Rousselin
Audrey Killian
Christiane Duponchel
Dominique Vaur
Françoise Révillion
Jean Christophe Théry
Jean-Philippe Peyrat
Mario Tosi
P2860
P2888
P304
P356
10.1038/EJHG.2011.100
P577
2011-06-15T00:00:00Z