Genetic epidemiology of hereditary non-polyposis colorectal cancer syndromes in Modena, Italy: Results of a complex segregation analysis

C. Scapoli, M. Ponz De Leon, R. Sassatelli, P. Benatti, L. Roncucci, A. Collins, N. E. Morton, I. Barrai

Research output: Contribution to journalArticlepeer-review

Abstract

Complex segregation analysis was conducted in a series of patients with hereditary nonpolyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigrees. The analysis favoured the two-loci model, in which the segregation at the major locus is compatible with codominant transmission with a frequency of 0.0044 for the high-risk allele for HNPCC and a lifetime penetrance of 0.728 for heterozygotes.

Original languageEnglish
Pages (from-to)275-295
Number of pages21
JournalAnnals of Human Genetics
Volume58
Issue number3
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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