Identification of cancer genes by mutational profiling of tumor genomes

Silvia Benvenuti, Sabrina Arena, Alberto Bardelli

Research output: Contribution to journalArticlepeer-review


It is now widely accepted that cancer is a genetic disease and that alterations in the DNA sequence underlie the development of every neoplasm. The identification of mutated genes that are causally implicated in oncogenesis ('cancer genes') has been a major goal in medical sciences for the last two decades. The availability of the human genome sequence coupled to the introduction of high throughput sequencing technologies has created an unprecedented opportunity in this field. It is now possible to perform mutational studies of entire cancer genomes thus providing a complete description of mutations underlying human oncogenesis. The recent identification of high frequency mutations in the BRAF and PI3K genes suggests that many more cancer genes remain to be discovered. In this review, we consider how the systematic mutational analysis of gene families in individual neoplasms has led to the identification of a number of cancer genes and how this information is influencing the treatment of cancer.

Original languageEnglish
Pages (from-to)1884-1890
Number of pages7
JournalFEBS Letters
Issue number8
Publication statusPublished - Mar 21 2005


  • Cancer genome
  • Gene family
  • Mutational analysis
  • Oncogenomics
  • Tailored therapies

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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