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Genetic epidemiology of Hereditary Nonpolyposis Colorectal-Cancer syndromesin Modena Italy: results of a complex segregation analysis

Genetic epidemiology of Hereditary Nonpolyposis Colorectal-Cancer syndromesin Modena Italy: results of a complex segregation analysis
Genetic epidemiology of Hereditary Nonpolyposis Colorectal-Cancer syndromesin Modena Italy: results of a complex segregation analysis
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
LYNCH-SYNDROME-I, HNPCC, COLON CANCER
0003-4800
275-295
Scapoli, Chiara
16bcb57e-4572-40d6-ba15-7360507b0ab5
De Leon, Maurizio Ponz
f365de2a-c4bc-4ef1-a3b8-74f38d48f5c4
Sassatelli, Romano
35936fcd-48ce-41bb-aecf-336616d8c3d9
Benatti, Piero
88d402fd-8fa4-4bda-9a37-4b0410548d2b
Roncucci, Luca
19ee27f7-2351-4641-9cf0-8d11f76bfdf9
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Morton, Newton Ennis
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Barrai, I.
c417dd51-e86a-4027-90ca-10cb17df7182
Scapoli, Chiara
16bcb57e-4572-40d6-ba15-7360507b0ab5
De Leon, Maurizio Ponz
f365de2a-c4bc-4ef1-a3b8-74f38d48f5c4
Sassatelli, Romano
35936fcd-48ce-41bb-aecf-336616d8c3d9
Benatti, Piero
88d402fd-8fa4-4bda-9a37-4b0410548d2b
Roncucci, Luca
19ee27f7-2351-4641-9cf0-8d11f76bfdf9
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Morton, Newton Ennis
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Barrai, I.
c417dd51-e86a-4027-90ca-10cb17df7182

Scapoli, Chiara, De Leon, Maurizio Ponz, Sassatelli, Romano, Benatti, Piero, Roncucci, Luca, Collins, Andrew, Morton, Newton Ennis and Barrai, I. (1994) Genetic epidemiology of Hereditary Nonpolyposis Colorectal-Cancer syndromesin Modena Italy: results of a complex segregation analysis. Annals of Human Genetics, 58 (Part 3), 275-295.

Record type: Article

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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More information

Published date: 1 July 1994
Keywords: LYNCH-SYNDROME-I, HNPCC, COLON CANCER

Identifiers

Local EPrints ID: 470498
URI: http://eprints.soton.ac.uk/id/eprint/470498
ISSN: 0003-4800
PURE UUID: 6c2b9594-12ea-4c78-9a96-8274d3d9a274
ORCID for Andrew Collins: ORCID iD orcid.org/0000-0001-7108-0771

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Date deposited: 11 Oct 2022 17:02
Last modified: 12 Oct 2022 01:33

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Contributors

Author: Chiara Scapoli
Author: Maurizio Ponz De Leon
Author: Romano Sassatelli
Author: Piero Benatti
Author: Luca Roncucci
Author: Andrew Collins ORCID iD
Author: Newton Ennis Morton
Author: I. Barrai

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