European Journal of Surgical Oncology
Volume 32, Issue 10 , Pages 1110-1113 , December 2006

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

  • J.C. Rodriguez-Sanjuan

      Affiliations

    • Departamento de Cirugía General y Digestiva II, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain
    • ,
  • A. Fontalba

      Affiliations

    • Unidad de Genetica Molecular, Hospital Universitario Marques de Valdecilla, Servicio Cantabro de Salud, Edificio Escuela Universitaria de Enfermeria, Av. Valdecilla s/n, 39008 Santander, Spain
    • ,
  • M. Mayorga

      Affiliations

    • Departamento de Anatomia Patologica, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain
    • ,
  • M.C. Bordin

      Affiliations

    • Department of Oncology, University of Cambridge, Cambridge CB2 2QQ, UK
    • ,
  • S.J. Hyland

      Affiliations

    • Department of Oncology, University of Cambridge, Cambridge CB2 2QQ, UK
    • ,
  • S. Trugeda

      Affiliations

    • Departamento de Cirugía General y Digestiva II, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain
    • ,
  • R.A. Garcia

      Affiliations

    • Departamento de Cirugía General y Digestiva II, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain
    • ,
  • M. Gomez-Fleitas

      Affiliations

    • Departamento de Cirugía General y Digestiva II, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain
    • ,
  • F. Fernandez

      Affiliations

    • Departamento de Anatomia Patologica, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain
    • ,
  • C. Caldas

      Affiliations

    • Department of Oncology, University of Cambridge, Cambridge CB2 2QQ, UK
    • ,
  • J.L. Fernandez-Luna

      Affiliations

    • Unidad de Genetica Molecular, Hospital Universitario Marques de Valdecilla, Servicio Cantabro de Salud, Edificio Escuela Universitaria de Enfermeria, Av. Valdecilla s/n, 39008 Santander, Spain
    • Corresponding Author InformationCorresponding author. Tel./fax: +34 942 200952.

,Accepted 21 June 2006.

References 

  1. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392:402–405
  2. 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;41:508–517
  3. Gayther SA, Gorringe KL, Ramus SJ, et al. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res. 1998;58:4086–4089
  4. Graziano F, Humar B, Guilford P. The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice. Ann Oncol. 2003;14:1705–1713
  5. 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;153:1049–1060
  6. Berx G, Becker KF, Hofler H, van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat. 1998;12:226–237
  7. Berx G, Cleton-Jansen AM, Strumane K, et al. E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. Oncogene. 1996;13:1919–1925
  8. Ikonen T, Matikainen M, Mononen N, et al. Association of E-cadherin germ-line alterations with prostate cancer. Clin Cancer Res. 2001;7:3465–3471
  9. Caldas C, Carneiro F, Lynch HT, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet. 1999;36:873–880
  10. Huntsman DG, Carneiro F, Lewis FR, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med. 2001;344:1904–1909
  11. Grady WM, Willis J, Guilford PJ, et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet. 2000;26:16–17
  12. Lynch HT, Grady W, Suriano G, Huntsman D. Gastric cancer: new genetic developments. J Surg Oncol. 2005;90:114–133
  13. Suriano G, Yew S, Ferreira P, et al. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res. 2005;11:5401–5409
  14. Charlton A, Blair V, Shaw D, Parry S, Guilford P, Martin IG. Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut. 2004;53:814–820

PII: S0748-7983(06)00242-3

doi: 10.1016/j.ejso.2006.06.006

European Journal of Surgical Oncology
Volume 32, Issue 10 , Pages 1110-1113 , December 2006

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