BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Source :

• Journal of Medical Genetics [ 0022-2593 ] ; 2012-08.

Descripteurs français

• Wicri :
  • topic : Cancer, Consortium, Collecte de données, Génétique, Recherche médicale.

English descriptors

• KwdEn :
  • Additional genotyping, Antoniou, Assay, Boadicea, Boadicea model, Brca1, Brca1 mutation, Brca1 mutation carriers, Brca1 variant, Brca2, Brca2 genes, Brca2 mutations, Brca2 variants, Brct, Breast, Breast cancer, Breast cancer risk, Breast cancer susceptibility genes brca1, Breast cancers, Cancer, Cancer genetics, Cancer risk, Cancer risks, Cause steric clashes, Cell line, Center utrecht, Centre, Classical mutations, Clinical genetics, Clinical genetics service, Clinical management, Comprehensive cancer center, Consortium, Copenhagen university hospital, Cosegregation, Cosegregation data, Cumulative risks, Data collection, Dutch belgium, Easton, Enigma collaborators, Equivocal results, Familial breast, Family cancer clinics, Family histories, Family history, Family history penetrance, Foundation trust, Functional assays, Future studies, General population, Genet, Genetic studies, Genetic susceptibility, Genetics, Genetics laboratory, Genetics service, Genomic medicine, Goldgar, Gomez garcia, Grantham deviation, Healey, Hereditary breast, Hospices civils, Human genetics, Institut, Institut curie, Intermediate function, Intermediate risk, Intermediate transcriptional transactivation activity, Internal medicine, Kconfab, Lakhani, Leiden university, Many families, Maximum likelihood estimate, Medical genetics, Medical research, Missense, Moderate risk, Molecular medicine cologne, Multifactorial, Multiple assays, Multiplier, Mutat, Mutation, Netherlands cancer institute, Null hypothesis, Odense university hospital, Ohio state university, Ovarian, Ovarian cancer, Ovarian cancer risk, Ovarian cancers, Pathogenic, Pathogenic brca1 mutation, Pathogenic mutation, Pathogenic mutations, Pathogenic variant, Pathogenicity, Pedigree phenotypes, Penetrance, Phosphopeptide recognition, Population health, Population rates, Probands, Queensland, Queensland institute, Rare sequence changes, Relative risks, Risk modelling, Risk variants, Salt lake city, Same centres, Same residue, Sequence variants, Single value, Spurdle, Standard model, Standard penetrance, Substitution, Tavtigian, Technical university, Time frame, Transactivation, Transcriptional, Transcriptional transactivation activity, Trypsin sensitivity, University hospital, Utah school, Variant, Variant brca1.
• Teeft :
  • Additional genotyping, Antoniou, Assay, Boadicea, Boadicea model, Brca1, Brca1 mutation, Brca1 mutation carriers, Brca1 variant, Brca2, Brca2 genes, Brca2 mutations, Brca2 variants, Brct, Breast, Breast cancer, Breast cancer risk, Breast cancer susceptibility genes brca1, Breast cancers, Cancer, Cancer genetics, Cancer risk, Cancer risks, Cause steric clashes, Cell line, Center utrecht, Centre, Classical mutations, Clinical genetics, Clinical genetics service, Clinical management, Comprehensive cancer center, Consortium, Copenhagen university hospital, Cosegregation, Cosegregation data, Cumulative risks, Data collection, Dutch belgium, Easton, Enigma collaborators, Equivocal results, Familial breast, Family cancer clinics, Family histories, Family history, Family history penetrance, Foundation trust, Functional assays, Future studies, General population, Genet, Genetic studies, Genetic susceptibility, Genetics, Genetics laboratory, Genetics service, Genomic medicine, Goldgar, Gomez garcia, Grantham deviation, Healey, Hereditary breast, Hospices civils, Human genetics, Institut, Institut curie, Intermediate function, Intermediate risk, Intermediate transcriptional transactivation activity, Internal medicine, Kconfab, Lakhani, Leiden university, Many families, Maximum likelihood estimate, Medical genetics, Medical research, Missense, Moderate risk, Molecular medicine cologne, Multifactorial, Multiple assays, Multiplier, Mutat, Mutation, Netherlands cancer institute, Null hypothesis, Odense university hospital, Ohio state university, Ovarian, Ovarian cancer, Ovarian cancer risk, Ovarian cancers, Pathogenic, Pathogenic brca1 mutation, Pathogenic mutation, Pathogenic mutations, Pathogenic variant, Pathogenicity, Pedigree phenotypes, Penetrance, Phosphopeptide recognition, Population health, Population rates, Probands, Queensland, Queensland institute, Rare sequence changes, Relative risks, Risk modelling, Risk variants, Salt lake city, Same centres, Same residue, Sequence variants, Single value, Spurdle, Standard model, Standard penetrance, Substitution, Tavtigian, Technical university, Time frame, Transactivation, Transcriptional, Transcriptional transactivation activity, Trypsin sensitivity, University hospital, Utah school, Variant, Variant brca1.

Abstract

• https://api.istex.fr/document/C65EA938DABF3F7A9F8DF99CC59CACF97643BDE1/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810416

Affiliations:

• Afrique du Sud, Allemagne, Australie, Danemark, Espagne, France, Pays-Bas, Royaume-Uni, Suède, États-Unis
• Auvergne-Rhône-Alpes, Bavière, Communauté de Madrid, District de Haute-Bavière, District de Leipzig, East Middle Sweden, Hollande-Méridionale, Hollande-Septentrionale, Hovedstaden, Minnesota, Ohio, Pennsylvanie, Rhône-Alpes, Saxe (Land), Svealand, Utah, Utrecht (province)
• Amsterdam, Copenhague, Leipzig, Leyde, Lyon, Madrid, Munich, Rotterdam, Stockholm, Uppsala, Utrecht
• Université Louis-et-Maximilien de Munich, Université d'Uppsala

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

• to stream Istex, to step Corpus: 002480
• to stream Istex, to step Curation: 002480
• to stream Istex, to step Checkpoint: 000477
• to stream Pmc, to step Corpus: 001F18
• to stream Pmc, to step Curation: 001D74
• to stream Pmc, to step Checkpoint: 002042
• to stream Ncbi, to step Merge: 000F32
• to stream Ncbi, to step Curation: 000F32
• to stream Ncbi, to step Checkpoint: 000F32
• to stream Main, to step Merge: 005819
• to stream Main, to step Curation: 005552

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