European Journal of Surgical Oncology
Volume 33, Issue 4 , Pages 448-451 , May 2007

Hereditary diffuse gastric cancer and E-cadherin: Description of the first germline mutation in an Italian family

  • F. Roviello

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • ,
  • G. Corso

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • ,
  • C. Pedrazzani

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 577 585156; fax: +39 577 585157.
    • ,
  • D. Marrelli

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • ,
  • G. De Falco

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Pathology, University of Siena, Italy
    • College of Science and Technology Sbarro Institute for Cancer Research and Molecular Medicine, Temple University, Philadelphia, PA, USA
    • ,
  • A. Berardi

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • ,
  • L. Garosi

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • ,
  • G. Suriano

      Affiliations

    • Institute of Molecular Pathology and Immunology of the University of Porto, University of Porto, Portugal
    • ,
  • C. Vindigni

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Pathology, University of Siena, Italy
    • ,
  • A. De Stefano

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    • ,
  • L. Leoncini

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Pathology, University of Siena, Italy
    • ,
  • R. Seruca

      Affiliations

    • Institute of Molecular Pathology and Immunology of the University of Porto, University of Porto, Portugal
    • ,
  • E. Pinto

      Affiliations

    • Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Viale Bracci 2, 53100 Siena, Italy

,Accepted 16 October 2006.

References 

  1. 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
  2. Berx G, Cleton-Jansen AM, Nollet F, et al. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 1995;14:6107–6115
  3. Takeichi M. Cadherin cell adhesion receptors as a morphogenetic regulator. Science. 1991;251:1451–1455
  4. Takeichi M. Cadherins in cancer: implications for invasion and metastasis. Curr Opin Cell Biol. 1993;5:806–811
  5. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392:402–405
  6. Caldas C, Carneiro F, Lynch HT, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet. 1999;36:873–880
  7. Graziano F, Ruzzo AM, Bearzi I, Testa E, Lai V, Magnani M. Screening E-cadherin germline mutations in Italian patients with familial diffuse gastric cancer: an analysis in the District of Urbino, Region Marche, Central Italy. Tumori. 2003;89:255–258
  8. 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
  9. Liu YC, Shen CY, Wu HS, et al. Mechanisms inactivating the gene for E-cadherin in sporadic gastric carcinomas. World J Gastroenterol. 2006;12:2168–2173
  10. Berx G, Becker KF, Hofler H, van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat. 1998;12:226–237
  11. Suriano G, Ferreira P, Mateus AR, Correia J, Henriques L, Seruca R. Genetics of hereditary diffuse gastric cancer: progress and future challenges. Future Oncol. 2006;2:363–370
  12. Suriano G, Mulholland D, de Wever O, et al. The intracellular E-cadherin germline mutation V832 M lacks the ability to mediate cell–cell adhesion and to suppress invasion. Oncogene. 2003;22:5716–5719
  13. Oliveira C, de Bruin J, Nabais S, et al. Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene. 2004;23:2236–2240
  14. 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 Jul 24 [Epub ahead of print].

PII: S0748-7983(06)00414-8

doi: 10.1016/j.ejso.2006.10.028

European Journal of Surgical Oncology
Volume 33, Issue 4 , Pages 448-451 , May 2007

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