a catalog of biological databases
|Description:||The IARC TP53 Database compiles various types of data and information on human TP53 gene variations related to cancer. Data are compiled from the peer-reviewed literature and from generalist databases|
|University/Institution:||International Agency for Research on Cancer|
|Address:||IARC, 150 Cours Albert Thomas, 69372 Lyon CEDEX 08, France|
|Contact name (PI/Team):||Magali Olivier|
|Contact email (PI/Helpdesk):||email@example.com|
A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers. [PMID: 28499267]
PURPOSE: Li-Fraumeni syndrome (LFS) is a rare genetic disease with strong predispositions to multiple early-onset neoplasms, mostly sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (LFS core cancers). In most LFS families the germline mutations of TP53 tumor suppressor gene were found. Lung cancer does not belong to the core cancers of LFS, however its higher incidence is observed in families with TP53 mutations. Our aim was to search for TP53 mutations in female lung cancer patients whose clinico-demographic characteristics suggested a probable genetic predisposition to the disease.
TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data. [PMID: 27328919]
TP53 gene mutations are one of the most frequent somatic events in cancer. The IARC TP53 Database (http://p53.iarc.fr) is a popular resource that compiles occurrence and phenotype data on TP53 germline and somatic variations linked to human cancer. The deluge of data coming from cancer genomic studies generates new data on TP53 variations and attracts a growing number of database users for the interpretation of TP53 variants. Here, we present the current contents and functionalities of the IARC TP53 Database and perform a systematic analysis of TP53 somatic mutation data extracted from this database and from genomic data repositories. This analysis showed that IARC has more TP53 somatic mutation data than genomic repositories (29,000 vs. 4,000). However, the more complete screening achieved by genomic studies highlighted some overlooked facts about TP53 mutations, such as the presence of a significant number of mutations occurring outside the DNA-binding domain in specific cancer types. We also provide an update on TP53 inherited variants including the ones that should be considered as neutral frequent variations. We thus provide an update of current knowledge on TP53 variations in human cancer as well as inform users on the efficient use of the IARC TP53 Database.