Human Genetics

, Volume 100, Issue 3–4, pp 345–349 | Cite as

Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP

  • Inko Nimmrich
  • Waltraut Friedl
  • Roland Kruse
  • Stephan Pietsch
  • Sebastian Hentsch
  • Rainer Deuter
  • Günther Winde
  • O. Müller
Original investigation

Abstract

The Min (multiple intestinal neoplasia) mouse with a germline mutation in the adenomatous polyposis coli gene serves as an animal model for familial adenomatous polyposis coli (FAP). The number and age at onset of colorectal adenomas varies in the offspring of Min mice crossed with other strains. The murine gene for the secretory phospholipase A2 (PLA2G2A) was found to be the main candidate for these variations. To test the hypothesis of a correlation between PLA2G2A gene alterations and human tumor development, we screened 14 patients with FAP and 20 patients with sporadic colorectal cancer for germline and somatic PLA2G2A gene mutations. None of the individuals with FAP showed PLA2G2A germline alterations. However, a germline mutation was observed in one patient with an apparently sporadic colorectal tumor; the wildtype allele was somatically lost in the tumor of this patient.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Inko Nimmrich
    • 1
  • Waltraut Friedl
    • 2
  • Roland Kruse
    • 2
  • Stephan Pietsch
    • 3
  • Sebastian Hentsch
    • 4
  • Rainer Deuter
    • 1
  • Günther Winde
    • 5
  • O. Müller
    • 1
  1. 1.Arbeitsgruppe Tumorgenetik, Max-Planck-Institut für molekulare Physiologie, Rheinlanddamm 201, D-44139 Dortmund, Germany Tel.: +49-231-1206-241; Fax: +49-231-1206-230 e-mail: oliver.mueller@mpi-dortmund.mpg.deDE
  2. 2.Institut für Humangenetik, Rheinische Friedrich-Wilhelms-Universität, D-53111 Bonn, GermanyDE
  3. 3.Städtische Kliniken, Chirurgische Klinik, D-44137 Dortmund, GermanyDE
  4. 4.Chirurgische Universitätsklinik, St. Josef-Hospital, D-44791 Bochum, GermanyDE
  5. 5.Chirurgische Universitätsklinik, Westfälische Wilhelms-Universität, D-48149 Münster, GermanyDE

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