European Journal of Surgical Oncology
Volume 36, Issue 6 , Pages 559-562 , June 2010

A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer

  • S.R. Ghaffari

      Affiliations

    • Department of Reproductive Genetics, Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
    • Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
    • Gene Clinic, Tehran, Iran
    • Corresponding Author InformationCorresponding author at: Department of Reproductive Genetics, Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran. Tel.: +98 21 66935655; fax: +98 21 66933336.
    • ,
  • M. Rafati

      Affiliations

    • Department of Reproductive Genetics, Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
    • Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
    • ,
  • T. Sabokbar

      Affiliations

    • Cancer Research Center, Cancer Institute, Tehran, Iran
    • ,
  • J. Dastan

      Affiliations

    • Gene Clinic, Tehran, Iran

,Accepted 3 April 2010.

References 

  1. Alberts SR, Cervantes A, van de Velde CJ. Gastric cancer: epidemiology, pathology and treatment. Ann Oncol. 2003;14(Suppl. 2):ii31–ii36
  2. Rodriguez-Sanjuan JC, Fontalba A, Mayorga M, et al. A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. Eur J Surg Oncol. 2006;32(10):1110–1113
  3. Oliveira C, Seruca R, Carneiro F. Genetics, pathology and clinics of familial gastric cancer. Int J Surg Pathol. 2006;14(1):21–33
  4. Kangelaris KN, Gruber SB. Clinical implications of founder and recurrent CDH1 mutations in hereditary diffuse gastric cancer. JAMA. 2007;297(21):2410–2411
  5. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392(6674):402–405
  6. Moran CJ, Joyce M, McAnena OJ. CDH1 associated gastric cancer: a report of a family and review of the literature. Eur J Surg Oncol. 2005;31(3):259–264
  7. Gottardi CJ, Wong E, Gumbiner BM. E-cadherin suppresses cellular transformation by inhibiting beta-catenin signaling in an adhesion-independent manner. J Cell Biol. 2001;153(5):1049–1060
  8. Barber ME, Save V, Carneiro F, et al. Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol. 2008;216(3):286–294
  9. Roviello F, Corso G, Pedrazzani C, et al. Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol. 2007;33(4):448–451
  10. Caldas C, Carneiro F, Lynch HT, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet. 1999;36(12):873–880
  11. Ghaffari SR, Dastan J, Rafati M, et al. Novel human pathological mutations. Gene symbol: CDH1. Disease: gastric cancer. Hum Genet. 2009;125(3):337
  12. Kaurah P, MacMillan A, Boyd N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007;297(21):2360–2372
  13. Brooks-Wilson AR, Kaurah P, Suriano G, et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004;41(7):508–517
  14. Lynch HT, Kaurah P, Wirtzfeld D, et al. Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy. Cancer. 2008;112(12):2655–2663

PII: S0748-7983(10)00069-7

doi: 10.1016/j.ejso.2010.04.001

European Journal of Surgical Oncology
Volume 36, Issue 6 , Pages 559-562 , June 2010

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