Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
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PALB2: research reaching to clinical outcomes for women with breast cancerA guide for functional analysis of BRCA1 variants of uncertain significanceTumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155Common and rare variants in multifactorial susceptibility to common diseasesFunctional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expressionThe CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers.Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.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.Patterns and functional implications of rare germline variants across 12 cancer typesDNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1A 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.Assessment of functional effects of unclassified genetic variants.Functional assays for analysis of variants of uncertain significance in BRCA2.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Two BRCA1/2 founder mutations in Jews of Sephardic origin.BRCA Share: A Collection of Clinical BRCA Gene Variants.High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.Comparing genetic variants detected in the 1000 genomes project with SNPs determined by the International HapMap Consortium.Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.Accurate classification of BRCA1 variants with saturation genome editing
P2860
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P2860
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
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
Identification of BRCA1 missen ...... ential moderate risk variants?
@ast
Identification of BRCA1 missen ...... ential moderate risk variants?
@en
type
label
Identification of BRCA1 missen ...... ential moderate risk variants?
@ast
Identification of BRCA1 missen ...... ential moderate risk variants?
@en
prefLabel
Identification of BRCA1 missen ...... ential moderate risk variants?
@ast
Identification of BRCA1 missen ...... ential moderate risk variants?
@en
P2093
P2860
P50
P356
P1476
Identification of BRCA1 missen ...... ential moderate risk variants?
@en
P2093
Beric R Henderson
Daniel Buchanan
Daniel J Farrugia
David E Goldgar
Melissa A Brown
Myth T S Mok
Paul K Lovelock
Sean V Tavtigian
Stephen Arnold
Sue Healey
P2860
P2888
P356
10.1186/BCR1826
P577
2007-01-01T00:00:00Z
P5875
P6179
1051850369