A guide for functional analysis of BRCA1 variants of uncertain significance - Test2 - elhamkhani - TriplyDB

A guide for functional analysis of BRCA1 variants of uncertain significance

A guide for functional analysis of BRCA1 variants of uncertain significance

http://www.wikidata.org/entity/Q26829268

about

PALB2: research reaching to clinical outcomes for women with breast cancer The expanding role of yeast in cancer research and diagnosis: insights into the function of the oncosuppressors p53 and BRCA1/2 Enhancer scanning to locate regulatory regions in genomic loci Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1 Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity Taking a chance on epigenetics Functional characterization of BRCA1 gene variants by mini-gene splicing assay.Functional and structural analysis of C-terminal BRCA1 missense variants.Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.BRCA1 Circos: a visualisation resource for functional analysis of missense variants.Deep mutational scanning: a new style of protein science BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making BRCA1 Mutation: A Predictive Marker for Radiation Therapy?BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Next-generation sequencing in the clinic: are we ready?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.BRCA1 is a novel regulator of metabolic function in skeletal muscle.Functional assays for analysis of variants of uncertain significance in BRCA2.The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review.Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation.Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.A 2015 survey of established or potential epigenetic biomarkers for the accurate detection of human cancers.Hereditary breast and ovarian cancer: new genes in confined pathways.BRCA Share: A Collection of Clinical BRCA Gene Variants.Expression of cancer related BRCA1 missense variants decreases MMS-induced recombination in Saccharomyces cerevisiae without altering its nuclear localization.Linking BRCA1 to NAD World.Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.The impact of hereditary cancer gene panels on clinical care and lessons learned.CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.Mapping Causal Variants with Single-Nucleotide Resolution Reveals Biochemical Drivers of Phenotypic Change.

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A guide for functional analysis of BRCA1 variants of uncertain significance

http://www.wikidata.org/entity/Q26829268

description

2012 nî lūn-bûn

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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

A guide for functional analysis of BRCA1 variants of uncertain significance

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A guide for functional analysis of BRCA1 variants of uncertain significance

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A guide for functional analysis of BRCA1 variants of uncertain significance

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type

label

A guide for functional analysis of BRCA1 variants of uncertain significance

@ast

A guide for functional analysis of BRCA1 variants of uncertain significance

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A guide for functional analysis of BRCA1 variants of uncertain significance

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prefLabel

A guide for functional analysis of BRCA1 variants of uncertain significance

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A guide for functional analysis of BRCA1 variants of uncertain significance

@en

A guide for functional analysis of BRCA1 variants of uncertain significance

@nl

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A guide for functional analysis of BRCA1 variants of uncertain significance

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Aneliya Velkova

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ENIGMA Consortium Functional Assay Working Group

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Etienne Rouleau

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Gaël A Millot

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Maaike P G Vreeswijk

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Marinus J Blok

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Susan L Neuhausen

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Thomas v O Hansen

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The BRCT domain is a phospho-protein binding domain

The BRCA1/BARD1 heterodimer assembles polyubiquitin chains through an unconventional linkage involving lysine residue K6 of ubiquitin

Mfold web server for nucleic acid folding and hybridization prediction

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains

Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains

The microRNA.org resource: targets and expression

Transterm: a database to aid the analysis of regulatory sequences in mRNAs

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium

Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex

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1526-1537

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10.1002/HUMU.22150

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11

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Melissa A Brown

Sandrine Caputo

Marcelo A Carvalho

Alvaro Monteiro

Fergus J. Couch

Rita D Brandão

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2012-07-16T00:00:00Z

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