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Buchmann Institute for Molecular Life... 1 Cell Death and Drug Resistance in Lym... 1 Central European Institute of Technol... 1 Department of Immunology Genetics and... 1 Department of Internal Medicine Hemat... 1 Department of Life Science Sorbonne U... 1 Department of Oncology Pathology Bioc... 1 Department of Women's and Children's ... 1 Equipe Labellisée par la Ligue Contre... 1 Faculty of Science Department of Expe... 1 Institute of Pharmaceutical Chemistry... 1 Metabolomics and Cell Biology Platfor... 1 Pôle de Biologie Hôpital Européen Geo... 1
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Buchmann Institute for Molecular Life... 1 Cell Death and Drug Resistance in Lym... 1 Central European Institute of Technol... 1 Department of Immunology Genetics and... 1 Department of Internal Medicine Hemat... 1 Department of Life Science Sorbonne U... 1 Department of Oncology Pathology Bioc... 1 Department of Women's and Children's ... 1 Equipe Labellisée par la Ligue Contre... 1 Faculty of Science Department of Expe... 1 Institute of Pharmaceutical Chemistry... 1 Metabolomics and Cell Biology Platfor... 1 Pôle de Biologie Hôpital Européen Geo... 1
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Doffe, Flora
Autor Doffe, Flora Equipe Labellisée par la Ligue Contre le Cancer, Université Paris Descartes, Université Sorbonne Paris Cité, Université Paris Diderot, Sorbonne Université, INSERM U1138, Centre de Recherche des Cordeliers, Paris, France Department of Oncology-Pathology, Bioclinicum, Karolinska Institutet, Stockholm, Sweden
- Carbonnier, Vincent
- Tissier, Manon
- Leroy, Bernard
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Martins, Isabelle
Autor Martins, Isabelle Equipe Labellisée par la Ligue Contre le Cancer, Université Paris Descartes, Université Sorbonne Paris Cité, Université Paris Diderot, Sorbonne Université, INSERM U1138, Centre de Recherche des Cordeliers, Paris, France Metabolomics and Cell Biology Platforms, Institut Gustave Roussy, Villejuif, France
- Mattsson, Johanna S M
- Micke, Patrick
- Pavlova, Sarka
- Pospisilova, Sarka
- Smardova, Jana
NLK
Free Medical Journals
od 2011
PubMed Central
od 2011 do Před 1 rokem
Europe PubMed Central
od 2011 do Před 1 rokem
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1997-01-01
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
PubMed
33257846
DOI
10.1038/s41418-020-00672-0
Knihovny.cz E-zdroje
Infrequent and rare genetic variants in the human population vastly outnumber common ones. Although they may contribute significantly to the genetic basis of a disease, these seldom-encountered variants may also be miss-identified as pathogenic if no correct references are available. Somatic and germline TP53 variants are associated with multiple neoplastic diseases, and thus have come to serve as a paradigm for genetic analyses in this setting. We searched 14 independent, globally distributed datasets and recovered TP53 SNPs from 202,767 cancer-free individuals. In our analyses, 19 new missense TP53 SNPs, including five novel variants specific to the Asian population, were recurrently identified in multiple datasets. Using a combination of in silico, functional, structural, and genetic approaches, we showed that none of these variants displayed loss of function compared to the normal TP53 gene. In addition, classification using ACMG criteria suggested that they are all benign. Considered together, our data reveal that the TP53 coding region shows far more polymorphism than previously thought and present high ethnic diversity. They furthermore underline the importance of correctly assessing novel variants in all variant-calling pipelines associated with genetic diagnoses for cancer.
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