about
A guide for functional analysis of BRCA1 variants of uncertain significanceBRCA1 Circos: a visualisation resource for functional analysis of missense variants.Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.Functional assays for analysis of variants of uncertain significance in BRCA2.The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.BRCA Share: A Collection of Clinical BRCA Gene Variants.S1 ribosomal protein functions in translation initiation and ribonuclease RegB activation are mediated by similar RNA-protein interactions: an NMR and SAXS analysis.Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations.Involvement of the FOXO6 transcriptional factor in breast carcinogenesis.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortHeight and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization StudyBreast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutationsStructural Analysis of the Smad2−MAN1 Interaction That Regulates Transforming Growth Factor-β Signaling at the Inner Nuclear MembraneGEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant CarriersNon-Coding Variants in and Genes: Potential Impact on Breast and Ovarian Cancer PredispositionBRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingNMR assignment of region 655-775 of human MAN1The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domainRare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predispositionA missense variant within BRCA1 exon 23 causing exon skippingNovel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortSkipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk"Decoding hereditary breast cancer" benefits and questions from multigene panel testingIs BRCA2 involved in early onset colorectal cancer risk?Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationThe high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosisHRness in Breast and Ovarian Cancers
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Sandrine Caputo
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Sandrine Caputo
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Sandrine Caputo
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Sandrine Caputo
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type
label
Sandrine Caputo
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Sandrine Caputo
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Sandrine Caputo
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Sandrine Caputo
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prefLabel
Sandrine Caputo
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Sandrine Caputo
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Sandrine Caputo
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Sandrine Caputo
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P1053
C-3860-2018
P106
P1153
36676340100
P21
P2798
P31
P496
0000-0001-5338-9388