The role of chromosomal alterations in human cancer development

Patrizia Gasparini, Gabriella Sozzi, Marco A. Pierotti

Research output: Contribution to journalArticlepeer-review

Abstract

Cancer cells become unstable and compromised because several cancer-predisposing mutations affect genes that are responsible for maintaining the genomic instability. Several factors influence the formation of chromosomal rearrangements and consequently of fusion genes and their role in tumorigenesis. Studies over the past decades have revealed that recurring chromosome rearrangements leading to fusion genes have a biological and clinical impact not only on leukemias and lymphomas, but also on certain epithelial tumors. With the implementation of new and powerful cytogenetic and molecular techniques the identification of fusion genes in solid tumors is being facilitated. Overall, the study of chromosomal translocations have revealed several recurring themes, and reached important insights into the process of malignant transformation. However, the mechanisms behind these translocations remain unclear. A more thorough understanding of the mechanisms that cause translocations will be aided by continuing characterization of translocation breakpoints and by developing in vitro and in vivo model systems that can generate chromosome translocation.

Original languageEnglish
Pages (from-to)320-331
Number of pages12
JournalJournal of Cellular Biochemistry
Volume102
Issue number2
DOIs
Publication statusPublished - Oct 1 2007

Keywords

  • Chromosomal rearrangements
  • Double strand break
  • Fragile site
  • Fusion genes
  • Gene deregulation
  • Genomic instability

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology

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