A database of germline p53 mutations in cancer-prone families

URL:

http://www.lf2.cuni.cz/projects/germline_mut_p53.htm

What you can do:

Search for published information on p53 gene mutations and resulting tumors in different families of patients.

Highlights:

This is a comprehensive database covering all published cases of germline p53 mutations.
The current version (2005) lists over 700 tumours in over 1500 individuals belonging to 253 independent pedigrees.
The database describes each p53 mutation (type of the mutation, exon and codon affected by the mutation, nucleotide and amino acid change), each family (family history of cancer, diagnosis of Li-Fraumeni syndrome), each affected individual (sex, generation, p53 status, from which parent the mutation was inherited) and each tumour (type, age of onset, p53 status-loss of heterozygosity, immunostaining).
Individuals affected by cancer who were experimentally shown not to carry a germline p53 mutation are not listed. Affected individuals belonging to a branch of the pedigree where a germline p53 mutation was excluded (phenocopies) are also not included.
Each entry also contains the original reference(s).
The database is regularly updated and can be downloaded as a every four months.

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Literature & Tutorials:

This record last updated: 03-28-2006