Database of Germline p53 Mutations

NAR Molecular Biology Database Collection entry number 126

Database Description

Somatic mutations in the p53 tumour suppressor gene are found in many human cancers. In addition, germline p53 mutations have been identified in individuals from cancer-prone families and in isolated cancer patients affected at a young age or suffering from multiple tumours. A large fraction of the cancer-prone families with germline p53 mutation conform to the criteria of Li-Fraumeni syndrome (LFS), a rare familial autosomal dominant cancer syndrome characterised by early-onset sarcomas, brain tumours, premenopausal breast cancer, leukaemias and adrenocortical tumours. Individuals carrying germline p53 mutations have a very broad spectrum of clinical manifestations in terms of penetrance, tumour type, tumour location and age of onset. The collection of a large set of data is thus necessary to establish possible correlations between the type and location of a germline p53 mutation and its phenotypic consequences. Such genotype-phenotype correlations may in turn improve the counselling and preventive approaches in the affected families. Reports of germline p53 mutations have accumulated rapidly since 1990, when their association with LFS and increased cancer susceptibility was made. Because the currently available databases of p53 gene mutations either exclude germline mutations or contain incomplete data, we created a comprehensive database of those cases of germline p53 mutations for which sufficient detail is given in the literature. In addition to listing all mutations, the database includes detailed information about the families, affected individuals and their tumours. It therefore provides a powerful means for drawing correlations between various aspects of germline p53 mutations. 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 LFS), 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 and immunostaining)). Each entry contains the original reference(s). 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. The current (August 1999) version of the database lists 697 tumours from 542 individuals belonging to 141 independent pedigrees with germline p53 mutations. The database is updated every four months. It is freely available and can be accessed via the World Wide Web at It is in Excel 97 format and can be loaded as Excel file or tab delimited text file. The legend to the database can be loaded as Word 97 file or plain text file.


Sedlacek Z., Kodet R., Poustka A., Goetz P. (1998) A database of germline p53 mutations in cancer-prone families. Nucleic Acids Res. 26: 214-215

Subcategory: Cancer gene databases

Go to the abstract in the NAR 1998 Database Issue.
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