Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas

V. Gismondi, L. Bonelli, S. Sciallero, P. Margiocco, A. Viel, P. Radice, P. Mondini, P. Sala, M. P. Montera, C. Mareni, M. Quaia, M. Fornasarig, M. Gentile, G. Pietro, P. Rossini, A. Arrigoni, G. M. Meucci, P. Bruzzi, Liliana Varesco

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Abstract

Loss of APC is an initial, rate-limiting event in inherited and sporadic colorectal tumorigenesis. Rare germline APC mutations have been identified in patients with multiple colorectal adenomas. Recently, the E1317Q APC variant has been associated with a predisposition to the development of multiple colorectal adenomas. In this study, the prevalence of the E1317Q variant was examined in 182 patients with single or multiple colorectal adenomas, and in 235 controls. In all, E1317Q was identified in two of 182 patients with adenomatous polyps (1.1%) and in two of 235 controls (0.8%) (p = 0.59). The risk of harboring adenoma(s) among subjects bearing the E1317Q variant was 1.29 (95% CI 0.09-18.0). No difference in the prevalence of E1317Q between cases with single (2.0%) or multiple colorectal adenomas (0.7%) and controls (0.8%) was found. None of the subjects with a family history of colorectal cancer carried the E1317Q variant. In conclusion, our results confirm that only a very small fraction of colorectal adenomas may be associated with the presence of E1317Q.

Original languageEnglish
Pages (from-to)313-317
Number of pages5
JournalGenetic Testing
Volume6
Issue number4
DOIs
Publication statusPublished - Dec 2002

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APC Genes
Adenoma
Adenomatous Polyps
Germ-Line Mutation
Colorectal Neoplasms
Carcinogenesis

ASJC Scopus subject areas

  • Genetics(clinical)

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Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. / Gismondi, V.; Bonelli, L.; Sciallero, S.; Margiocco, P.; Viel, A.; Radice, P.; Mondini, P.; Sala, P.; Montera, M. P.; Mareni, C.; Quaia, M.; Fornasarig, M.; Gentile, M.; Pietro, G.; Rossini, P.; Arrigoni, A.; Meucci, G. M.; Bruzzi, P.; Varesco, Liliana.

In: Genetic Testing, Vol. 6, No. 4, 12.2002, p. 313-317.

Research output: Contribution to journalArticle

Gismondi, V. ; Bonelli, L. ; Sciallero, S. ; Margiocco, P. ; Viel, A. ; Radice, P. ; Mondini, P. ; Sala, P. ; Montera, M. P. ; Mareni, C. ; Quaia, M. ; Fornasarig, M. ; Gentile, M. ; Pietro, G. ; Rossini, P. ; Arrigoni, A. ; Meucci, G. M. ; Bruzzi, P. ; Varesco, Liliana. / Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. In: Genetic Testing. 2002 ; Vol. 6, No. 4. pp. 313-317.
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abstract = "Loss of APC is an initial, rate-limiting event in inherited and sporadic colorectal tumorigenesis. Rare germline APC mutations have been identified in patients with multiple colorectal adenomas. Recently, the E1317Q APC variant has been associated with a predisposition to the development of multiple colorectal adenomas. In this study, the prevalence of the E1317Q variant was examined in 182 patients with single or multiple colorectal adenomas, and in 235 controls. In all, E1317Q was identified in two of 182 patients with adenomatous polyps (1.1{\%}) and in two of 235 controls (0.8{\%}) (p = 0.59). The risk of harboring adenoma(s) among subjects bearing the E1317Q variant was 1.29 (95{\%} CI 0.09-18.0). No difference in the prevalence of E1317Q between cases with single (2.0{\%}) or multiple colorectal adenomas (0.7{\%}) and controls (0.8{\%}) was found. None of the subjects with a family history of colorectal cancer carried the E1317Q variant. In conclusion, our results confirm that only a very small fraction of colorectal adenomas may be associated with the presence of E1317Q.",
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