J Med Genet. 1992 Aug;29(8):531-8.

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

Ponz de Leon M, Scapoli C, Zanghieri G, Sassatelli R, Sacchetti C, Barrai I.

Source

Colorectal Cancer Study Group, University of Modena, Italy.

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.

PMID:: 1518021; [PubMed - indexed for MEDLINE]
PMCID:: PMC1016056

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Genetic epidemiology of hereditary non-polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis. [Ann Hum Genet. 1994]
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Cited by 2 PubMed Central articles

Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. [Gut. 1999]
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Family history of cancer and risk of colorectal cancer in Italy.
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