FHIT alterations in breast cancer

Sigurdur Ingvarsson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)


The FHIT gene encodes a diadenosine hydrolase and may be involved in growth control pathways of the cell. Studies on protein-protein interactions, cell lines, including tumourigenicity tests, and knockout mice suggest that the Fhit protein is involved in cell proliferation and apoptosis, and might act as a tumour suppressor. In several different cancers, including breast cancer, alterations in the FHIT gene have been detected in high frequency. The most common alterations are: deletions, DNA hypermethylation, abnormal transcripts and reduced expression at RNA and protein level. The FHIT gene is located at the FRA3B fragile site at chromosome 3p14.2, and alterations in the FHIT gene and Fhit protein have been found associated with genome instability, particularly in BRCA2 mutated breast tumours. This paper will focus on some of the functional aspects of the Fhit protein with respect to tumour pathogenesis and on aberrations detected in breast cancer.

Original languageEnglish
Pages (from-to)361-366
Number of pages6
JournalSeminars in Cancer Biology
Issue number5
Publication statusPublished - 2001

Other keywords

  • Altered expression
  • BRCA2
  • Breast cancer
  • Deletion
  • FHIT
  • Genetic instability


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