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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

ABSTRACT: 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 9? and 9?, 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.

SUBMITTER: Leroy B

PROVIDER: S-EPMC7457206 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 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 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 tw ...[more]

PMID: 28254861

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Publications

Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical Practice.

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