Functional assays for classification of BRCA2 variants of uncertain significance. - Test2 - elhamkhani - TriplyDB

Functional assays for classification of BRCA2 variants of uncertain significance.

Functional assays for classification of BRCA2 variants of uncertain significance.

http://www.wikidata.org/entity/Q34116524

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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay Functional characterization and identification of mouse Rad51d splice variants Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.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.A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.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 Prediction and assessment of splicing alterations: implications for clinical testing.Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection Inhibition of Cdk2 kinase activity selectively targets the CD44⁺/CD24⁻/Low stem-like subpopulation and restores chemosensitivity of SUM149PT triple-negative breast cancer cells.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity The Molecular Taxonomy of Primary Prostate Cancer.Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing ENIGMA--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 genes A 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.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Oncogenic alternative splicing switches: role in cancer progression and prospects for therapy.Assessment of functional effects of unclassified genetic variants.The Clinical Significance of Unknown Sequence Variants in BRCA Genes.Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.Functional assays for analysis of variants of uncertain significance in BRCA2.Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Hypoxia-dependent mRNA expression pattern of splicing factor YT521 and its impact on oncological important target gene expression.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy.A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history.

P2860

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P2860

Functional assays for classification of BRCA2 variants of uncertain significance.

http://www.wikidata.org/entity/Q34116524

description

2008 nî lūn-bûn

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2008 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2008 թվականի մայիսին հրատարակված գիտական հոդված

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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name

Functional assays for classification of BRCA2 variants of uncertain significance.

@ast

Functional assays for classification of BRCA2 variants of uncertain significance.

@en

Functional assays for classification of BRCA2 variants of uncertain significance.

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type

label

Functional assays for classification of BRCA2 variants of uncertain significance.

@ast

Functional assays for classification of BRCA2 variants of uncertain significance.

@en

Functional assays for classification of BRCA2 variants of uncertain significance.

@nl

prefLabel

Functional assays for classification of BRCA2 variants of uncertain significance.

@ast

Functional assays for classification of BRCA2 variants of uncertain significance.

@en

Functional assays for classification of BRCA2 variants of uncertain significance.

@nl

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0008-5472.CAN-07-1587

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Cancer Research

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Functional assays for classification of BRCA2 variants of uncertain significance.

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Amie M Deffenbaugh

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Cynthia Frye

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Daniel J Farrugia

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David E Goldgar

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Dmitry Pruss

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Jennifer Mentlick

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Kiley Johnson

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Mukesh K Agarwal

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Sean V Tavtigian

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P2860

The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure

RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

Biallelic inactivation of BRCA2 in Fanconi anemia

Identification of the breast cancer susceptibility gene BRCA2

BRCA2 is required for homology-directed repair of chromosomal breaks

A full-likelihood method for the evaluation of causality of sequence variants from family data.

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions

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3523-3531

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9

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Fergus J. Couch

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5401821

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