A guide for functional analysis of BRCA1 variants of uncertain significance

A guide for functional analysis of BRCA1 variants of uncertain significance

Source :

• Human Mutation [ 1059-7794 ] ; 2012-11.

Descripteurs français

• Wicri :
  • topic : Base de données.

English descriptors

• KwdEn :
  • Acad, Allele, Assay, Bard1, Biol, Brca1, Brca1 expression, Brca1 variants, Brca2, Brca2 variants, Brct, Brct domain, Brct domains, Breast cancer, Cancer biol, Cancer risk, Cell line, Cell viability, Centrosome, Chang, Chem, Database, Easton, Family history, Functional analysis, Functional assay, Functional assays, Functional impact, Genet, Genetic testing, Germline, Goldgar, Human mutation, Ligase, Lindor, Missense, Monteiro, Multifactorial, Multifactorial models, Mutat, Mutation, Natl, Nucleic, Nucleic acids, Ovarian, Ovarian cancer, Ovarian cancers, Pathogenic, Pathogenic variant, Pathogenic variants, Phenotype, Phosphopeptide, Phosphorylated, Proc, Proc natl acad, Promoter, Radiation resistance, Recombination, Ring domain, Rodriguez, Scully, Sequence variants, Splice, Suppressor, Tavtigian, Transcription, Tumor suppression, Ubiquitin, Ubiquitin ligase activity, Variant, Wang.
• Teeft :
  • Acad, Allele, Assay, Bard1, Biol, Brca1, Brca1 expression, Brca1 variants, Brca2, Brca2 variants, Brct, Brct domain, Brct domains, Breast cancer, Cancer biol, Cancer risk, Cell line, Cell viability, Centrosome, Chang, Chem, Database, Easton, Family history, Functional analysis, Functional assay, Functional assays, Functional impact, Genet, Genetic testing, Germline, Goldgar, Human mutation, Ligase, Lindor, Missense, Monteiro, Multifactorial, Multifactorial models, Mutat, Mutation, Natl, Nucleic, Nucleic acids, Ovarian, Ovarian cancer, Ovarian cancers, Pathogenic, Pathogenic variant, Pathogenic variants, Phenotype, Phosphopeptide, Phosphorylated, Proc, Proc natl acad, Promoter, Radiation resistance, Recombination, Ring domain, Rodriguez, Scully, Sequence variants, Splice, Suppressor, Tavtigian, Transcription, Tumor suppression, Ubiquitin, Ubiquitin ligase activity, Variant, Wang.

Abstract

• https://api.istex.fr/document/F24BD9BD6C55F9C15D260F179453AB3FDC267FA7/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470782

Affiliations:

• Australie, Brésil, Danemark, France, Italie, Pays-Bas, Royaume-Uni, États-Unis
• Angleterre, Californie, Floride, Grand Manchester, Hollande-Méridionale, Hovedstaden, Minnesota, État de Rio de Janeiro, Île-de-France
• Copenhague, Leyde, Manchester, Paris, Rio de Janeiro
• Université de Manchester

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002D62
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• to stream Istex, to step Checkpoint: 000660
• to stream Pmc, to step Corpus: 002114
• to stream Pmc, to step Curation: 001F68
• to stream Pmc, to step Checkpoint: 002096
• to stream Ncbi, to step Merge: 000E80
• to stream Ncbi, to step Curation: 000E80
• to stream Ncbi, to step Checkpoint: 000E80
• to stream Main, to step Merge: 005A02
• to stream Main, to step Curation: 005735

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