Locus-specific mutation databases: Pitfalls and good practice based on the p53 experience

Thierry Soussi, Chikashi Ishioka, Mireille Claustres, Christophe Béroud

Research output: Contribution to journalReview articlepeer-review

116 Citations (Scopus)

Abstract

Between 50,000 and 60,000 mutations have been described in various genes that are associated with a wide variety of diseases. Reporting, storing and analysing these data is an important challenge as such data provide invaluable information for both clinical medicine and basic science. Locus-specific databases have been developed to exploit this huge volume of data. The p53 mutation database is a paradigm, as it constitutes the largest collection of somatic mutations (22,000). However, there are several biases in this database that can lead to serious erroneous interpretations. We describe several rules for mutation database management that could benefit the entire scientific community.

Original languageEnglish
Pages (from-to)83-90
Number of pages8
JournalNature Reviews Cancer
Volume6
Issue number1
DOIs
Publication statusPublished - 2006 Jan

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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