Genetic epidemiology of hereditary non‐polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis
Genetic epidemiology of hereditary non‐polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis
Complex segregation analysis was conducted in a series of patients with hereditary non‐polyposis 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.
275-295
Scapoli, C.
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Leon, M. Ponz De
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Sassatelli, R.
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Benatti, P.
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Roncucci, L.
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Collins, Andrew
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Morton, N. E.
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Barrai, I.
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July 1994
Scapoli, C.
8d2a91c8-fe24-4e40-aaa6-d41e252f7369
Leon, M. Ponz De
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Sassatelli, R.
35936fcd-48ce-41bb-aecf-336616d8c3d9
Benatti, P.
88d402fd-8fa4-4bda-9a37-4b0410548d2b
Roncucci, L.
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Collins, Andrew
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Morton, N. E.
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Barrai, I.
c417dd51-e86a-4027-90ca-10cb17df7182
Scapoli, C., Leon, M. Ponz De, Sassatelli, R., Benatti, P., Roncucci, L., Collins, Andrew, Morton, N. E. and Barrai, I.
(1994)
Genetic epidemiology of hereditary non‐polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis.
Annals of Human Genetics, 58 (3), .
(doi:10.1111/j.1469-1809.1994.tb01891.x).
Abstract
Complex segregation analysis was conducted in a series of patients with hereditary non‐polyposis 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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Published date: July 1994
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Local EPrints ID: 474766
URI: http://eprints.soton.ac.uk/id/eprint/474766
ISSN: 0003-4800
PURE UUID: b969abd7-9b96-4c84-9206-44e072a3550b
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Date deposited: 02 Mar 2023 17:45
Last modified: 17 Mar 2024 02:38
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Author:
C. Scapoli
Author:
M. Ponz De Leon
Author:
R. Sassatelli
Author:
P. Benatti
Author:
L. Roncucci
Author:
N. E. Morton
Author:
I. Barrai
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