Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance
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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes Among Korean Breast Cancer Patients.Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized MedicineAnalysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.Analysis of BRCA2 loss of heterozygosity in tumor tissue using droplet digital polymerase chain reaction.Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care.Hereditary breast cancer: clinical, pathological and molecular characteristics.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityCharacterization of BRCA1 ring finger variants of uncertain significancePersonalized medicine: new genomics, old lessonsCharacterization of an Italian founder mutation in the RING-finger domain of BRCA1.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1.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 genesA review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence.Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancerFunctional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantFunctional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypesBiallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.The Clinical Significance of Unknown Sequence Variants in BRCA Genes.Targeting the LKB1 tumor suppressor.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.Phenotype-genotype correlation in familial breast cancer.Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.Data disclosure crucial after DNA patent verdict.The Preventive Intervention of Hereditary Breast Cancer.A Danish national effort of BRCA1/2 variant classification.Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
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P2860
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 29 September 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Clinically applicable models t ...... ants of uncertain significance
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Clinically applicable models t ...... nts of uncertain significance.
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type
label
Clinically applicable models t ...... ants of uncertain significance
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Clinically applicable models t ...... nts of uncertain significance.
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prefLabel
Clinically applicable models t ...... ants of uncertain significance
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Clinically applicable models t ...... nts of uncertain significance.
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P2093
P2860
P356
P1476
Clinically applicable models t ...... ants of uncertain significance
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P2093
Andrew D Spearman
Jane McLennan
Kevin Sweet
Xiao-Ping Zhou
P2860
P304
P356
10.1200/JCO.2008.17.8228
P407
P577
2008-09-29T00:00:00Z