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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
B. Leroy, ML. Ballinger, F. Baran-Marszak, GL. Bond, A. Braithwaite, N. Concin, LA. Donehower, WS. El-Deiry, P. Fenaux, G. Gaidano, A. Langerød, E. Hellstrom-Lindberg, R. Iggo, J. Lehmann-Che, PL. Mai, D. Malkin, UM. Moll, JN. Myers, KE. Nichols,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, přehledy
NLK
Free Medical Journals
od 1941 do Před 1 rokem
Freely Accessible Science Journals
od 1941 do Před 1 rokem
Open Access Digital Library
od 1941-01-01
Open Access Digital Library
od 1941-01-01
- MeSH
- genetická variace genetika MeSH
- lidé MeSH
- nádorový supresorový protein p53 genetika MeSH
- nádory diagnóza genetika terapie MeSH
- řízení kvality * MeSH
- směrnice pro lékařskou praxi jako téma normy MeSH
- validační studie jako téma MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of TP53 are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing TP53 status in clinical samples. Finally, we discuss how TP53 alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports. Cancer Res; 77(6); 1250-60. ©2017 AACR.
Bergonié Cancer Institute University of Bordeaux 229 cours de l'Argonne 33076 Bordeaux France
Cancer Division Garvan Institute of Medical Research Darlinghurst NSW Australia
Department of Genetics Institute for Cancer Research Oslo University Hospital Oslo Norway
Department of Gynecology and Obstetrics Innsbruck Medical University Innsbruck Austria
Department of Pathology Stony Brook University Stony Brook New York
Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda Maryland
Human Genome Sequencing Center Baylor College of Medicine Houston Texas
Molecular Oncology Unit Hospital Saint Louis Paris France
Sorbonne Université UPMC Univ Paris 06 Paris France
The University of Texas MD Anderson Cancer Center Houston Texas
University of Heidelberg Department of Medicine 5 Heidelberg Germany
Citace poskytuje Crossref.org
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