Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. - Test2 - elhamkhani - TriplyDB

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

http://www.wikidata.org/entity/Q30485153

about

Multigene testing of moderate-risk genes: be mindful of the missense New challenges for BRCA testing: a view from the diagnostic laboratory A guide for functional analysis of BRCA1 variants of uncertain significance Rare 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 study Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.BRCA-associated ovarian cancer: from molecular genetics to risk management Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Growing recognition of the role for rare missense substitutions in breast cancer susceptibility Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.BRCA1 Circos: a visualisation resource for functional analysis of missense variants.Germline BRCA1 mutations increase prostate cancer risk Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry.A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.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.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.Germline mutations in Japanese familial pancreatic cancer patients.Functional assays for analysis of variants of uncertain significance in BRCA2.Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.Functional Interaction Between and DNA Repair in Yeast May Uncover a Role of , and Somatic Variants in Cancer Development Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

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P2860

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

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2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2011年の論文

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Classification of missense sub ...... a database dedicated to Ex-UVs

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Amanda Gammon

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David E Goldgar

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Davit Babikyan

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Megan K Judkins

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Tiana C Francy

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P2860

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

Biallelic inactivation of BRCA2 in Fanconi anemia

Identification of the breast cancer susceptibility gene BRCA2

The breast cancer information core: database design, structure, and scope.

A full-likelihood method for the evaluation of causality of sequence variants from family data.

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

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10.1002/HUMU.21629

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1

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33

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Maxime P Vallée

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