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Recommended guidelines for validation, quality control, and reporting of TP53 variants in clinical practice


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 9beta and 9gamma, 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. (c)2017 AACR.

Type Journal
ISBN 1538-7445 (Electronic) 0008-5472 (Linking)
Authors Leroy, B.; Ballinger, M. L.; Baran-Marszak, F.; Bond, G. L.; Braithwaite, A.; Concin, N.; Donehower, L. A.; El-Deiry, W. S.; Fenaux, P.; Gaidano, G.; Langerod, A.; Hellstrom-Lindberg, E.; Iggo, R.; Lehmann-Che, J.; Mai, P. L.; Malkin, D.; Moll, U. M.; Myers, J. N.; Nichols, K. E.; Pospisilova, S.; Ashton-Prolla, P.; Rossi, D.; Savage, S. A.; Strong, L. C.; Tonin, P. N.; Zeillinger, R.; Zenz, T.; Fraumeni, J. F., Jr.; Taschner, P. E.; Hainaut, P.; Soussi, T.
Responsible Garvan Author Dr Mandy Ballinger
Published Date 2017-03-15
Published Volume 77
Published Issue 6
Published Pages 1250-1260
Status Published in-print
DOI 10.1158/0008-5472.CAN-16-2179
URL link to publisher's version