Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
about
Multigene testing of moderate-risk genes: be mindful of the missenseProbing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutationNew sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia.Computational approaches to study the effects of small genomic variations.Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedCharacterization 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.Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family historyBRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expressionEstimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2Toward classification of BRCA1 missense variants using a biophysical approach.The K898E germline variant in the PP1-binding motif of BRCA1 causes defects in DNA Repair.Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.Functional assays for classification of BRCA2 variants of uncertain significance.Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.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.Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair.Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.Growing recognition of the role for rare missense substitutions in breast cancer susceptibilityThe BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicClassification of BRCA1 missense variants of unknown clinical significance.New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencingIn silico analysis of missense substitutions using sequence-alignment based methods.Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer'A variant of uncertain significance' and the proliferation of human disease gene databases.A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesEvaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patientsBRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Mammalian evolution and biomedicine: new views from phylogeny.Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
P2860
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P2860
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Analysis of missense variation ...... terspecific sequence variation
@ast
Analysis of missense variation ...... terspecific sequence variation
@en
Analysis of missense variation ...... terspecific sequence variation
@nl
type
label
Analysis of missense variation ...... terspecific sequence variation
@ast
Analysis of missense variation ...... terspecific sequence variation
@en
Analysis of missense variation ...... terspecific sequence variation
@nl
prefLabel
Analysis of missense variation ...... terspecific sequence variation
@ast
Analysis of missense variation ...... terspecific sequence variation
@en
Analysis of missense variation ...... terspecific sequence variation
@nl
P2093
P2860
P3181
P356
P1476
Analysis of missense variation ...... terspecific sequence variation
@en
P2093
A M Deffenbaugh
A Zharkikh
D Shattuck
M H Skolnick
S V Tavtigian
V Abkevich
P2860
P304
P3181
P356
10.1136/JMG.2003.015867
P407
P577
2004-07-01T00:00:00Z