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

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

Arcispedale Santa Maria Nuova

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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 language	English
Pages (from-to)	275-295
Number of pages	21
Journal	Annals of Human Genetics
Volume	58
Issue number	3
Publication status	Published - 1994

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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

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.",

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year = "1994",

language = "English",

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T1 - Genetic epidemiology of hereditary non-polyposis colorectal cancer syndromes in Modena, Italy

T2 - Results of a complex segregation analysis

AU - Scapoli, C.

AU - Ponz De Leon, M.

AU - Sassatelli, R.

AU - Benatti, P.

AU - Roncucci, L.

AU - Collins, A.

AU - Morton, N. E.

AU - Barrai, I.

PY - 1994

Y1 - 1994

N2 - 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.

AB - 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.

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JO - Annals of Human Genetics

JF - Annals of Human Genetics

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IS - 3

ER -

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

Abstract

ASJC Scopus subject areas

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