Locus‐specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

Locus‐specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

Source :

• Human Mutation [ 1059-7794 ] ; 2008-11.

Descripteurs français

• Wicri :
  • topic : Base de données, Génétique, Recherche médicale.

English descriptors

• KwdEn :
  • Allele frequencies, Allelic variants, Annotation, Assay, Basic science, Basic scientists, Brca1, Brca2, Breast cancer information core, Canadian breast cancer research alliance, Cancer genetics community, Cancer susceptibility genes, Cdkn2a, Cdkn2a mutation database, Center groningen, Classification system, Clinical classification, Clinical purposes, Clinical significance, Clinical utility, Clinician, Computational, Computational algorithms, Computational data, Critical resource, Curation, Curator, Data sources, Database, Database curators, David goldgar, Diagnostic laboratories, Dutch cancer society, Easton, Ente cassa, European community, Evolutionary conservation, Expert panel, Family history, Frans hogervorst, Functional assays, Functional data, Functional impacts, Gene, Gene databases, Gene variants, Gene variations, Genet, Genet cotton, Genetic, Genetic testing, Genetic variants, Genetic variation, Genetics, Genetics community, Genome, Genome research institute, Goldgar, Grant number, Greenblatt, Hereditary nonpolyposis colorectal cancer, High standards, Hospices civils, Human genome variation society, Human mutation, Human variome project, Iarc, Ideal characteristics, Important role, Inappropriate conclusions, Kconfab investigators, Lawrence brody, Likelihood ratios, Lsdb, Lsdbs, Many times, Mcgill university, Medical research, Medical research council, Mismatch repair, Missense, Missense variants, Multiple data sources, Multiple data types, Multiple types, Mutat, Mutat couch, Mutation, Mutation data, Mutation database, Mutation databases, National institutes, Other articles, Other lsdbs, Pathogenic, Pathogenicity, Patient management, Phenotype, Plon, Posterior probability, Primary literature, Protein change, Publication credit, Relevant data, Research purposes, Same variant, Scientific communities, Sequence variants, Sharon plon, Somatic mutations, Steering committee, Summary sheets, Susceptibility, Tavtigian, Unclassified variants, Unknown significance, Unpublished data, Variant, Variome.
• Teeft :
  • Allele frequencies, Allelic variants, Annotation, Assay, Basic science, Basic scientists, Brca1, Brca2, Breast cancer information core, Canadian breast cancer research alliance, Cancer genetics community, Cancer susceptibility genes, Cdkn2a, Cdkn2a mutation database, Center groningen, Classification system, Clinical classification, Clinical purposes, Clinical significance, Clinical utility, Clinician, Computational, Computational algorithms, Computational data, Critical resource, Curation, Curator, Data sources, Database, Database curators, David goldgar, Diagnostic laboratories, Dutch cancer society, Easton, Ente cassa, European community, Evolutionary conservation, Expert panel, Family history, Frans hogervorst, Functional assays, Functional data, Functional impacts, Gene, Gene databases, Gene variants, Gene variations, Genet, Genet cotton, Genetic, Genetic testing, Genetic variants, Genetic variation, Genetics, Genetics community, Genome, Genome research institute, Goldgar, Grant number, Greenblatt, Hereditary nonpolyposis colorectal cancer, High standards, Hospices civils, Human genome variation society, Human mutation, Human variome project, Iarc, Ideal characteristics, Important role, Inappropriate conclusions, Kconfab investigators, Lawrence brody, Likelihood ratios, Lsdb, Lsdbs, Many times, Mcgill university, Medical research, Medical research council, Mismatch repair, Missense, Missense variants, Multiple data sources, Multiple data types, Multiple types, Mutat, Mutat couch, Mutation, Mutation data, Mutation database, Mutation databases, National institutes, Other articles, Other lsdbs, Pathogenic, Pathogenicity, Patient management, Phenotype, Plon, Posterior probability, Primary literature, Protein change, Publication credit, Relevant data, Research purposes, Same variant, Scientific communities, Sequence variants, Sharon plon, Somatic mutations, Steering committee, Summary sheets, Susceptibility, Tavtigian, Unclassified variants, Unknown significance, Unpublished data, Variant, Variome.

Abstract

• https://api.istex.fr/document/45E4D7946533803885CDA7197DAAC1B9701F2627/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446852

Affiliations:

• Australie, Canada, France, Italie, Pays-Bas, États-Unis
• Auvergne-Rhône-Alpes, Groningue (province), Maryland, Québec, Rhône-Alpes, Texas, Vermont
• Groningue, Lyon, Montréal
• Université McGill

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