Low incidence of hereditary nonpolyposis colorectal cancer syndrome in a selected area of the Lombardy Cancer Registry

M. Cornaggia, M. G. Tibiletti, L. Albarello, M. Taborelli, E. D. Longa, C. Capella

Research output: Contribution to journalArticle

Abstract

Aims and background: Epidemiological investigations on the frequency of hereditary nonpolyposis colorectal cancer (HN-PCC) syndrome are few and have shown a variable worldwide incidence ranging from 1% to 7% of all colorectal cancers (CRCs). In Italy, relevant differences have been observed: 2.8-3% of all CRCs in northern regions and less than 1% in southern regions. The aim of the present study was to investigate the HNPCC incidence in a selected area of northern Italy belonging to the Lombardy Cancer Registry. Methods and study design: We analyzed 197 consecutive patients with newly diagnosed CRCs, histologically verified, and resident in two areas of the Lombardy Cancer Registry. For each case, genetic counseling with at least three generations pedigree reconstruction, HNPCC classification according to Amsterdam criteria, molecular analysis for microsatellite instability and immunohistochemistry for hMLH1 and hMSH2 were performed. Results: A very low frequency (0.5%) of HNPCC fulfilling the Amsterdam criteria was found in comparison to the other Italian areas. Such an incidence seems to be due to actual population differences and reflects a genetic heterogeneity. Conclusions: The data underline the importance of a precise knowledge of actual HNPCC incidence in different populations in order to optimize effectiveness and efficiency of screening programs for the disease.

Original languageEnglish
Pages (from-to)439-444
Number of pages6
JournalTumori
Volume86
Issue number6
Publication statusPublished - 2000

Keywords

  • Hereditary nonpolyposis colorectal cancer syndrome (HNPCC)
  • Incidence of HNPCC

ASJC Scopus subject areas

  • Cancer Research

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    Cornaggia, M., Tibiletti, M. G., Albarello, L., Taborelli, M., Longa, E. D., & Capella, C. (2000). Low incidence of hereditary nonpolyposis colorectal cancer syndrome in a selected area of the Lombardy Cancer Registry. Tumori, 86(6), 439-444.