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The TP 53 Gene Network in a Postgenomic Era
Author(s) -
Soussi Thierry
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22562
Subject(s) - biology , gene , missense mutation , genetics , computational biology , mdm2 , mdmx , mutation , cancer , bioinformatics
Inactivation of TP53 pathways are the most common defects observed in human cancer. Although missense mutations remain the most frequent genetic event, it is now evident that dysfunction of several members of this network such as MDM2, MDM4 (mdmX), or miR‐125b can substitute for TP53 mutations. This special issue on TP53 brings the TP53 gene into the post‐genomic era. Several fundamental features of wild type and mutant proteins and their modifications are reviewed, as well as animal models and clinical aspects such as recommendations for patient care. The complex structure of this gene warrants innovative strategies to infer a more accurate status of human tumors. Recommendations and guidelines for reporting and annotating TP53 variants are also provided, to help researchers generate standardized data that are easy to understand, analyze, and exchange across various cancer variant databases.