Correlation between relatives for colorectal cancer mortality in familial adenomatous polyposis

S. Presciuttini, L. Bertario, P. Sala, C. Rossetti, R. C. Lewontin

Research output: Contribution to journalArticlepeer-review


It has long been realized that age-specific cancer mortality in Familial Adenomatous Polyposis (FAP) was bimodal, and a theory was proposed in which the involved locus was polymorphic in the general population. After the molecular cloning of the region 5q21, it has been suggested that the phenotypic variability in FAP may be due to the interaction of two loci, one of which is polymorphic. We show that these two hypotheses lead to different predictions of the correlation between relatives for a phenotypic trait, and use colorectal cancer mortality data from the Italian Polyposes Registry to verify them. We conclude that the first of the two is more likely and suggest that the same variation that we observe among the affected subjects is present in the general population, thus causing a significant difference between individuals for colon cancer susceptibility.

Original languageEnglish
Pages (from-to)105-115
Number of pages11
JournalAnnals of Human Genetics
Issue number2
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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