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Autor
Aalfs, Cora M 1 Abugattas, Julio 1 Adlard, Julian 1 Agata, Simona 1 Aittomäki, Kristiina 1 Andrews, Lesley 1 Andrulis, Irene L 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Arnold, Norbert 1 Arun, Banu K 1 Asseryanis, Ella 1 Auerbach, Leo 1 Azzollini, Jacopo 1 Balmaña, Judith 1 Barile, Monica 1 Barkardottir, Rosa B 1 Barrowdale, Daniel 1 Benitez, Javier 1 Berger, Andreas 1
- Organizace
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Pracoviště
All Wales Medical Genetics Services U... 1 Biomedical Network on Rare Diseases M... 1 Biomedical Sciences Institute Univers... 1 Bâtiment Cheney D Centre Léon Bérard ... 1 CRCHU de Quebec oncologie Centre des ... 1 Cancer Genetics Laboratory Department... 1 Cancer Genetics Service Division of M... 1 Cancer Genetics and Prevention Progra... 1 Cancer Research Center Seoul National... 1 Cancer Research Initiatives Foundatio... 1 Cancer Risk and Prevention Clinic Dan... 1 Center for Clinical Cancer Genetics a... 1 Center for Familial Breast and Ovaria... 1 Center for Genomic Medicine Rigshospi... 1 Center for Medical Genetics Ghent Uni... 1 Center for Medical Genetics North Sho... 1 Centre Antoine Lacassagne Nice France 1 Centre de Lutte Contre le Cancer Geor... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre of Familial Breast and Ovarian... 1
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Země - grant
- Grantová agentura
- Nejvíce citované
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Autor
Aalfs, Cora M 1 Abugattas, Julio 1 Adlard, Julian 1 Agata, Simona 1 Aittomäki, Kristiina 1 Andrews, Lesley 1 Andrulis, Irene L 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Arnold, Norbert 1 Arun, Banu K 1 Asseryanis, Ella 1 Auerbach, Leo 1 Azzollini, Jacopo 1 Balmaña, Judith 1 Barile, Monica 1 Barkardottir, Rosa B 1 Barrowdale, Daniel 1 Benitez, Javier 1 Berger, Andreas 1
- Organizace
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Pracoviště
All Wales Medical Genetics Services U... 1 Biomedical Network on Rare Diseases M... 1 Biomedical Sciences Institute Univers... 1 Bâtiment Cheney D Centre Léon Bérard ... 1 CRCHU de Quebec oncologie Centre des ... 1 Cancer Genetics Laboratory Department... 1 Cancer Genetics Service Division of M... 1 Cancer Genetics and Prevention Progra... 1 Cancer Research Center Seoul National... 1 Cancer Research Initiatives Foundatio... 1 Cancer Risk and Prevention Clinic Dan... 1 Center for Clinical Cancer Genetics a... 1 Center for Familial Breast and Ovaria... 1 Center for Genomic Medicine Rigshospi... 1 Center for Medical Genetics Ghent Uni... 1 Center for Medical Genetics North Sho... 1 Centre Antoine Lacassagne Nice France 1 Centre de Lutte Contre le Cancer Geor... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre of Familial Breast and Ovarian... 1
- Publikační typ
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- Kategorie
- Jazyk
- Země
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- Země - grant
- Grantová agentura
- Nejvíce citované
Nejvíce citovaný článek - PubMed ID 10682665
PubMed
29446198
PubMed Central
PMC5903938
DOI
10.1002/humu.23406
Knihovny.cz E-zdroje
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
- Klíčová slova
- BRCA1, BRCA2, breast cancer, ethnicity, geography, mutation, ovarian cancer,
- MeSH
- databáze genetické MeSH
- internacionalita * MeSH
- lidé MeSH
- mutace genetika MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- rodina MeSH
- zeměpis MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
- Názvy látek
- BRCA1 protein, human MeSH Prohlížeč
- BRCA2 protein, human MeSH Prohlížeč
- protein BRCA1 MeSH
- protein BRCA2 MeSH
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