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FHIT

MIM.601153 3p14.2

Sunday 5 March 2006

Pathology

- The constitutional translocation t(3;8)(p14.2;q24.1) fuses FHIT at 3p14 with the patched-related gene TRC8 at 8q24.1 (9689122) with formation of the TRC8/FHIT fusion gene). It predisposes to

  • hereditary renal clear cell carcinoma (17539022)
  • hereditary renal clear cell carcinoma and non-medullary thyroid cancer (470981, 12522559, 17539022)
  • TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway (12032852)

References

- Poland KS, Azim M, Folsom M, Goldfarb R, Naeem R, Korch C, Drabkin HA, Gemmill RM, Plon SE. A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma. Genes Chromosomes Cancer. 2007 May 30; PMID: 17539022

- Shi, Y.; Zou, M.; Farid, N. R.; Paterson, M. C. :
Association of FHIT (fragile histidine triad), a candidate tumour suppressor gene, with the ubiquitin-conjugating enzyme hUBC9. Biochem. J. 352: 443-448, 2000. PubMed ID : 11085938

- Cohen, A. J.; Li, F. P.; Berg, S.; Marchetto, D. J.; Tsai, S.; Jacobs, S. C.; Brown, R. S. : Hereditary renal-cell carcinoma associated with chromosomal translocation. New Eng. J. Med. 301: 592-595, 1979. PubMed ID : 470981

- Dumon, K. R.; Ishii, H.; Fong, L. Y. Y.; Zanesi, N.; Fidanza, V.; Mancini, R.; Vecchione, A.; Baffa, R.; Trapasso, F.; During, M. J.; Huebner, K.; Croce, C. M. : FHIT gene therapy prevents tumor development in Fhit-deficient mice. Proc. Nat. Acad. Sci. 98: 3346-3351, 2001. PubMed ID : 11248081

- Fong, L. Y. Y.; Fidanza, V.; Zanesi, N.; Lock, L. F.; Siracusa, L. D.; Mancini, R.; Siprashvili, Z.; Ottey, M.; Martin, S. E.; Druck, T.; McCue, P. A.; Croce, C. M.; Huebner, K. : Muir-Torre-like syndrome in Fhit-deficient mice. Proc. Nat. Acad. Sci. 97: 4742-4747, 2000. PubMed ID : 10758156

- Gemmill, R. M.; West, J. D.; Boldog, F.; Tanaka, N.; Robinson, L. J.; Smith, D. I.; Li, F.; Drabkin, H. A. : The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. Proc. Nat. Acad. Sci. 95: 9572-9577, 1998. PubMed ID : 9689122