Cancer Letters
Volume 225, Issue 1 , Pages 93-98 , 8 July 2005

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer

  • Sergi Castellví-Bel

      Affiliations

    • Gastroenterology Department, Institut de Malalties Digestives, IDIBAPS, Barcelona, Catalonia, Spain
    • ,
  • Antoni Castells

      Affiliations

    • Gastroenterology Department, Institut de Malalties Digestives, IDIBAPS, Barcelona, Catalonia, Spain
    • Corresponding Author InformationCorresponding author. Tel.: +34 93 227 5418; fax: +34 93 227 9387.
    • ,
  • Mark Strunk

      Affiliations

    • Gastroenterology Department, Institut de Malalties Digestives, IDIBAPS, Barcelona, Catalonia, Spain
    • ,
  • Ángel Ferrández

      Affiliations

    • Gastroenterology Department, Hospital Clínico Universitario, Zaragoza, Spain
    • ,
  • Elena Piazuelo

      Affiliations

    • Gastroenterology Department, Hospital Clínico Universitario, Zaragoza, Spain
    • ,
  • Montserrat Milà

      Affiliations

    • Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Catalonia, Spain
    • ,
  • Virgínia Piñol

      Affiliations

    • Gastroenterology Department, Institut de Malalties Digestives, IDIBAPS, Barcelona, Catalonia, Spain
    • ,
  • Francisco Rodríguez-Moranta

      Affiliations

    • Gastroenterology Department, Institut de Malalties Digestives, IDIBAPS, Barcelona, Catalonia, Spain
    • ,
  • Montserrat Andreu

      Affiliations

    • Department of Gastroenterology, Hospital del Mar, Barcelona, Catalonia, Spain
    • ,
  • Ángel Lanas

      Affiliations

    • Gastroenterology Department, Hospital Clínico Universitario, Zaragoza, Spain
    • ,
  • Josep Maria Piqué

      Affiliations

    • Gastroenterology Department, Institut de Malalties Digestives, IDIBAPS, Barcelona, Catalonia, Spain
    • ,
  • The Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

      Affiliations

    • All authors are listed in Appendix.

Received 13 December 2004 ,Revised 30 January 2005 ,Accepted 31 January 2005.

References 

  1. GLOBOCAN 2000: Cancer Incidence, Mortality and Prevalence Worldwide, Version 1.0. IARC CancerBase No. 5. Lyon, IARCPress, 2001; http://www.dep.iarc.fr/globocan/globocan.html).
  2. Chung DC, Rugsti AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann. Int. Med. 2003;138:560–570
  3. Piñol V, Andreu M, Castells A, Paya A, Bessa X, Rodrigo J, et al. Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain: a multicentre, prospective, nationwide study. Eur. J. Gastroenterol. Hepatol. 2004;16:39–45
  4. Peltomäki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum. Mol. Genet. 2001;10:735–740
  5. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum. 1991;34:424–425
  6. International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC), Mutation database; http://www.insight-group.org.
  7. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat. Genet. 1998;20:326–328
  8. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, et al. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res. 2002;62:848–853
  9. Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br. J. Cancer. 2002;87:892–897
  10. Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, et al. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int. J. Cancer. 2003;103:636–641
  11. Nakagawa H, Hampel H, de la Chapelle A. Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum. Mutat. 2003;22:258
  12. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum. Mutat. 2003;22:428–433
  13. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30:e57
  14. Casals T, Ramos MD, Gimenez J, Larriba S, Nunes V, Estivill X. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum. Genet. 1997;101:365–370

PII: S0304-3835(05)00105-9

doi: 10.1016/j.canlet.2005.01.036

Cancer Letters
Volume 225, Issue 1 , Pages 93-98 , 8 July 2005

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