P53

The p53 mutations were identified by DNA sequencing of PCR-amplified material or cloned PCR products. Preliminary screening for mutations by techniques such as those employing SSCP or DGGE/CDGE (reviewed in Rossiter & Caskey, 1990; Grompe, 1993) were often performed. Most analyses were confined to exons 5-8, since early studies noted that mutations occurred primarily in this evolutionarily conserved midregion. A bias against identification of DNA sequence alterations outside this mutation cluster region can thus be expected. If the same mutations were published in more than one article, only one report is referenced, either the first or the most complete report, and the data are only entered once in the database. If the identical mutation was found in two separate samples from the same patient, for example in the primary tumor and in the metastatic tissue, the mutation is considered to be a single event and is entered only once. Tandem mutations, i.e. two adjacent base substitutions, are also considered as one mutation event and are entered together; therefore there will be only one identification number (see below) for this mutation pair. Discrepancies in published reports that are clearly due to typographical errors or that can be explained by other information in the publication have been corrected. In this case, or if there are uncorrected errors or ambiguities regarding a mutation record, the letter 'e' appears in column M (see below). Information that does not permit us to identify the nature and location of the mutation has not been entered. Mutations found by digestion of DNA with a restriction enzyme and demonstration of an RFLP are not entered; however, publications reporting such data will be cited in the electronic version as second appendix. Mutations identified in tumors are presumed to be somatic unless 1) analysis of normal tissue from the same patient demonstrated that the mutation was constitutional in that individual, or 2) the mutation corresponded to one of the known constitutional polymorphisms of the human p53 gene (at codons 21, 31, 47, 72, and 213), as these are unlikely to be mutations that arose in the tumors. Germline mutations, including those identified in families with the Li-Fraumeni cancer syndrom are not in this database, but will be included in the near future.

Note: There is a systematic error in CpG values in the current database version. Use CpG field with caution!

See also the description of the mutation database access integration project.

The p53 story in this site is getting a bit more complex. See p53 project status for the whole picture.

MutRes: M0000004