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About the database
Aim and scope
The IARC TP53 Mutation Database has been maintained and developed at the International Agency for Research on Cancer in Lyon, France, since 1994. The database compiles all TP53 mutations that have been reported in the published literature since 1989. This information is useful to compile tumor-specific mutation patterns and to draw hypotheses on the nature of the molecular events involved in TP53 mutagenesis. It also allows the analysis of genotype/phenotype relationships. The project consists in: The following information is freely available as a service to the scientific community: 1. The Somatic Mutation Dataset contains exclusively
p53 mutations associated with human cancers that have been identified by
sequencing and published in the peer-reviewed literature. It includes
mutations found in normal, pre-neoplastic and neoplastic tissues,
including metastases, as well as in cell lines derived from such
tissues. The database does not include information on (1) mutations that
have not been precisely identified by sequencing (e.g. mutations
identified only by SSCP, DGGE or restriction digestion), (2)
experimentally-induced mutations in tumor cells or cell lines in vitro,
(3) p53 mutations in animal tumors. 2. The Germline Mutation Dataset contains
information on families fulfilling the definition of Li-Fraumeni and
Li-Fraumeni related syndromes and on individuals carrying a germline
mutation in the TP53 gene. Criteria for inclusion are the following: a)
individuals carrying a sequenced TP53 germline mutation, affected or not
by a cancer, b) individuals affected by a cancer and belonging to a
family defined as LFS or LFL, presenting or not a germline mutation
(TP53 or other). Since we mainly concentrated on individuals carrying a
TP53 germline mutation, the database does not include LFS or LFL
families described in the literature and for which TP53 mutation have
not been investigated. 3. The Polymorphism dataset contains gene variations that have been found in unaffected human populations.
Information on frequency of heterozygotes is provided as well as links to other resources that provide population frequencies or disease associations.
4. Two datasets contain data on the biological properties of p53 mutant proteins (function datasets).
The properties have been tested in functional assays performed in yeast or human cells. Information on the experimental system used,
the reference from which the information has been extracted and the results of the functional tests is compiled. 5. A dataset on TP53 gene mutation status in human cell-lines can be searched online as of October 2006.
6. A mutation validation tool has been implemented to help the formating of mutation data and the interpretation of the significance of a specific mutation for cancer development.
7. Information on p53 3D protein structure and structural impact of mutations is provided through different tools.
Data on the stability of some mutant proteins are also given.
8. A dataset on mouse-models has been added since the R12 release. It consists in a list of mouse models with engineered p53 that are compiled
in the caMOD database or reported in the scientific literature.
Database updates are preformed once a year and identified by a number.
The current release is R14 (November 2009). |