A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
about
Multigene testing of moderate-risk genes: be mindful of the missenseA guide for functional analysis of BRCA1 variants of uncertain significanceThe next controversy in genetic testing: clinical data as trade secrets?Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesTwo decades after BRCA: setting paradigms in personalized cancer care and preventionPitfalls of predicting complex traits from SNPs.How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care.Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch SyndromeUnderstanding of BRCA VUS genetic results by breast cancer specialists.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.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.BRCA1 Circos: a visualisation resource for functional analysis of missense variants.New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencingSpectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods studyGenetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variationsMutation screening of RAD51C in high-risk breast and ovarian cancer families.Gene-panel sequencing and the prediction of breast-cancer risk.Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypesA classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activityA Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working groupBRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Genomic Biomarkers for Breast Cancer Risk.Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.Functional assays for analysis of variants of uncertain significance in BRCA2.Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genesDiagnostic cancer genome sequencing and the contribution of germline variants.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.
P2860
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P2860
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
A review of a multifactorial p ...... uncertain significance (VUS).
@ast
A review of a multifactorial p ...... uncertain significance (VUS).
@en
type
label
A review of a multifactorial p ...... uncertain significance (VUS).
@ast
A review of a multifactorial p ...... uncertain significance (VUS).
@en
prefLabel
A review of a multifactorial p ...... uncertain significance (VUS).
@ast
A review of a multifactorial p ...... uncertain significance (VUS).
@en
P2093
P2860
P50
P356
P1433
P1476
A review of a multifactorial p ...... uncertain significance (VUS).
@en
P2093
David E Goldgar
Lucia Guidugli
Maxime P Vallée
Noralane M Lindor
Sean Tavtigian
P2860
P356
10.1002/HUMU.21627
P577
2011-11-03T00:00:00Z