A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy
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, Northern Italy. Altogether there were 125 nuclear families segregating for HNPCC, for a total of 672 individuals. The analysis favoured a two-locus model, with both susceptibility genes rare and dominant. The gene frequency of the deleterious allele at the major locus is estimated to be low qm = 0.004 and for the second locus the estimate is even lower p = 0.00003. Both genes defining the two-locus model seem to be highly penetrant. The lifetime penetrance of the abnormal gene at the major locus is estimated to be 0.73 for female, while the estimation for male is higher, 0.85.
109-119
Scapoli, C.
8d2a91c8-fe24-4e40-aaa6-d41e252f7369
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Benatti, P.
88d402fd-8fa4-4bda-9a37-4b0410548d2b
Percesepe, A.
fa28d459-2972-4647-8fc0-19fed3325b0f
Roncucci, L.
19ee27f7-2351-4641-9cf0-8d11f76bfdf9
Ponz De Leon, M.
b85f3561-94f9-4d30-a5f3-c22e4d70c323
1 March 1997
Scapoli, C.
8d2a91c8-fe24-4e40-aaa6-d41e252f7369
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Benatti, P.
88d402fd-8fa4-4bda-9a37-4b0410548d2b
Percesepe, A.
fa28d459-2972-4647-8fc0-19fed3325b0f
Roncucci, L.
19ee27f7-2351-4641-9cf0-8d11f76bfdf9
Ponz De Leon, M.
b85f3561-94f9-4d30-a5f3-c22e4d70c323
Scapoli, C., Collins, A., Benatti, P., Percesepe, A., Roncucci, L. and Ponz De Leon, M.
(1997)
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy.
Annals of Human Genetics, 61 (2), .
(doi:10.1017/S0003480097006003).
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, Northern Italy. Altogether there were 125 nuclear families segregating for HNPCC, for a total of 672 individuals. The analysis favoured a two-locus model, with both susceptibility genes rare and dominant. The gene frequency of the deleterious allele at the major locus is estimated to be low qm = 0.004 and for the second locus the estimate is even lower p = 0.00003. Both genes defining the two-locus model seem to be highly penetrant. The lifetime penetrance of the abnormal gene at the major locus is estimated to be 0.73 for female, while the estimation for male is higher, 0.85.
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Published date: 1 March 1997
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Local EPrints ID: 470935
URI: http://eprints.soton.ac.uk/id/eprint/470935
ISSN: 0003-4800
PURE UUID: b8242e36-3fd3-44cf-bde9-989076aedb58
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Date deposited: 21 Oct 2022 16:33
Last modified: 17 Mar 2024 02:38
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Author:
C. Scapoli
Author:
P. Benatti
Author:
A. Percesepe
Author:
L. Roncucci
Author:
M. Ponz De Leon
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