Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
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ABSTRACT:
SUBMITTER: Leroy B
PROVIDER: S-EPMC7457206 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Publications
Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical Practice.
Leroy Bernard B Ballinger Mandy L ML Baran-Marszak Fanny F Bond Gareth L GL Braithwaite Antony A Concin Nicole N Donehower Lawrence A LA El-Deiry Wafik S WS Fenaux Pierre P Gaidano Gianluca G Langerød Anita A Hellstrom-Lindberg Eva E Iggo Richard R Lehmann-Che Jacqueline J Mai Phuong L PL Malkin David D Moll Ute M UM Myers Jeffrey N JN Nichols Kim E KE Pospisilova Sarka S Ashton-Prolla Patricia P Rossi Davide D Savage Sharon A SA Strong Louise C LC Tonin Patricia N PN Zeillinger Robert R Zenz Thorsten T Fraumeni Joseph F JF Taschner Peter E M PE Hainaut Pierre P Soussi Thierry T
Cancer research 20170301 6
Accurate assessment of <i>TP53</i> 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 <i>TP53</i> as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 <i>TP53</i> variants reveals that the tw ...[more]
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