European Journal of Surgical Oncology
Volume 34, Issue 12 , Pages 1322-1327 , December 2008

Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation

  • M. Tanyi

      Affiliations

    • Department of Surgery, University of Debrecen, Medical and Health Science Centre, Nagyerdei Krt 98, P.O. Box 27, H-4012 Debrecen, Hungary
    • Corresponding Author InformationCorresponding author. Tel.: +36 20 9657683; fax: +36 52 415 517.
    • ,
  • J. Olasz

      Affiliations

    • Department of Pathogenetics, National Institute of Oncology, Budapest, Hungary
    • ,
  • E. Kámory

      Affiliations

    • Department of Pathogenetics, National Institute of Oncology, Budapest, Hungary
    • ,
  • O. Csuka

      Affiliations

    • Department of Pathogenetics, National Institute of Oncology, Budapest, Hungary
    • ,
  • J.L. Tanyi

      Affiliations

    • Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
    • ,
  • Z. Ress

      Affiliations

    • Third Department of Internal Medicine, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary
    • ,
  • L. Damjanovich

      Affiliations

    • Department of Surgery, University of Debrecen, Medical and Health Science Centre, Nagyerdei Krt 98, P.O. Box 27, H-4012 Debrecen, Hungary

,Accepted 8 January 2008.

References 

  1. Lawes DA, Sengupta SB, Boulos PB, et al. Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. Br J Surg. 2002;89:1357–1369
  2. Lynch HT, Schuelke GS, Kimberling WJ, et al. Hereditary nonpolyposis colorectal cancer (Lynch syndrome I and II). II. Biomarker studies. Cancer. 1985;56:939–951
  3. Lynch HT, Lanspa S, Smyrk T, Boman B, Watson P, Lynch J. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, part I. Cancer Genet Cytogenet. 1991;5:143–160
  4. Debniak T, Kurzawski G, Gorski B, et al. Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations is patients with colorectal cancer. Eur J Cancer. 2000;36:49–54
  5. Jass JR. Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World J Gastroenterol. 2006;12(31):4943–4950
  6. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–5257
  7. Beck NE, Tomlinson IPM, Homfray T, et al. Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum Genet. 1997;99:219–224
  8. Yanagisawa Y, Akiyama Y, Iida S, et al. Methylation of the hMLH1 promoter in familial gastric cancer with microsatellite instability. Int J Cancer. 2000;85:50–53
  9. The Human Gene Mutation Database Cardiff. http://archive.uwcm.ac.uk/uwcm/mg/searc/203983.htlm.
  10. International Society for Gastrointestinal Hereditary Tumors. http://www.insight-group.org.
  11. Tanyi M, Olasz J, Lukács G, et al. Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer. World J Gastroenterol. 2006;12(8):1192–1197
  12. Kámory E, Tanyi M, Kolacsek O, et al. Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history. Pathol Oncol Res. 2006;12(4):228–233
  13. Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott RJ, Lubinski J. Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods. 2002;51:89–100
  14. Lynch HT, Riley BD, Weismann S, et al. Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: problems in diagnosis, surveillance, and management. Cancer. 2003;100:53–64
  15. Samowitz WS, Curtin K, Lin HH, et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology. 2001;121:830–838
  16. National Institute of Environmental Health Sciences Genome Project, NIEHS SNPs. http://egp.gs.washington.edu/M.htlm.
  17. Hutter P, Couturier A, Membrez V, et al. Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. Int J Cancer. 1998;78:80–84
  18. Cederquist K, Emanuelsson M, Goransson I, et al. Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. Int J Cancer. 2004;109:370–376
  19. Kurzawski G, Suchy J, Kladny J, et al. Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. [abstract] J Med Genet. 2002;39:e65

PII: S0748-7983(08)00021-8

doi: 10.1016/j.ejso.2008.01.006

European Journal of Surgical Oncology
Volume 34, Issue 12 , Pages 1322-1327 , December 2008

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