A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
about
Keeping up with the next generation: massively parallel sequencing in clinical diagnosticsA guide for functional analysis of BRCA1 variants of uncertain significanceOncogenes induce the cancer-associated fibroblast phenotype: metabolic symbiosis and "fibroblast addiction" are new therapeutic targets for drug discoveryComprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesPathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approachImpact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide RecognitionProbing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1Sharing data between LSDBs and central repositoriesRare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancersRare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening studyThe next controversy in genetic testing: clinical data as trade secrets?New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia.Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes Among Korean Breast Cancer Patients.Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report.Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modelingCharacterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?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 weighted U-statistic for genetic association analyses of sequencing data.Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer PatientsIntegrated analysis of germline and somatic variants in ovarian cancer.Microsatellite genotyping reveals a signature in breast cancer exomes.Prediction and assessment of splicing alterations: implications for clinical testing.DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status.Genetic and molecular functional characterization of variants within TNFSF13B, a positional candidate preeclampsia susceptibility gene on 13qAnalysis of BRCA2 loss of heterozygosity in tumor tissue using droplet digital polymerase chain reaction.Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1Privacy and data management in the era of massively parallel next-generation sequencing.Only connect: personal genomics and the future of American medicine.Functional assays for classification of BRCA2 variants of uncertain significance.Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Functional differences among BRCA1 missense mutations in the control of centrosome duplication
P2860
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P2860
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
A systematic genetic assessmen ...... st cancer-predisposition genes
@ast
A systematic genetic assessmen ...... st cancer-predisposition genes
@en
type
label
A systematic genetic assessmen ...... st cancer-predisposition genes
@ast
A systematic genetic assessmen ...... st cancer-predisposition genes
@en
prefLabel
A systematic genetic assessmen ...... st cancer-predisposition genes
@ast
A systematic genetic assessmen ...... st cancer-predisposition genes
@en
P2093
P2860
P50
P356
P1476
A systematic genetic assessmen ...... st cancer-predisposition genes
@en
P2093
Amie M Deffenbaugh
Cynthia Frye
David E Goldgar
Dmitry Pruss
Edwin S Iversen
Kristina Allen-Brady
Richard J Wenstrup
Sean V Tavtigian
P2860
P304
P356
10.1086/521032
P407
P577
2007-09-06T00:00:00Z