Genetic transmission of colorectal cancer: Exploratory data analysis from a population based registry

Maurizio Ponz De Leon, Chiara Scapoli, Gianni Zanghieri, Romano Sassatelli, Carla Sacchetti, Italo Barrai

Research output: Contribution to journalArticlepeer-review

Abstract

Classical segregation analysis was conducted on 605 families of probands with colorectal carcinoma ascertained through the Cancer Registry of the Province of Modena in Italy. The families were classified as 28 suspected hereditary non-polyposis colorectal cancer (HNPCC) syndromes and 577 presumed non-HNPCC. In 11 of these, both parents had colorectal carcinoma, in 130 one parent was affected, and in 436 both parents were normal. In the suspected HNPCC families, segregation was compatible with dominant transmission of susceptibility to carcinoma. In families with one parent affected, the segregation frequency was almost exactly equal to the frequency of segregation in families where both parents were normal. The model of dominant transmission of susceptibility through a major gene with greatly reduced penetrance in heterozygotes fitted the data acceptably.

Original languageEnglish
Pages (from-to)531-538
Number of pages8
JournalJournal of Medical Genetics
Volume29
Issue number8
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Public Health, Environmental and Occupational Health
  • Health(social science)

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