Association of APC gene mutations and histological characteristics of colorectal adenomas

Laura De Benedetti, Stefania Sciallero, Viviana Gismondi, Rosella James, Anna Bafico, Roberta Biticchi, Emiliana Masetti, Luigina Bonelli, Abdelhamid Heouaine, Massimo Picasso, Joanna Groden, Margaret Robertson, Mauro Risio, Renzo Caprilli, Paolo Bruzzi, Raymond L. White, Hugo Aste, Leonardo Santi, Liliana Varesco, Giovannni Battista Ferrara

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Abstract

Fifty-nine colonic adenomas and 6 hyperplastic colonic polyps were analyzed by single-strand conformation polymorphism analysis for mutations in the adenomatous polyposis coli gene (APC). Frameshifts and premature stop codons in at least one copy of APC were detected in 25 of these adenomas. Five adenomas carried 2 APC mutations. No mutations in APC were found in any of the 6 hyperplastic polyps. The detection of APC mutations increased with size and degree of dysplasia and in rectal as compared to colonic adenomas, although the association was not statistically significant. The frequency of detectable APC mutations was higher in tubulovillous and villous adenomas (10 of 13) than in tubular adenomas (15 of 45) (odds ratio, 6.67; 95% confidence limits, 1.39-41.83; P = 0.005). The significance of the association between the detection of APC mutations and a villous architecture was confirmed in multivariate analysis (relative risk, 6.67; 95% confidence limits, 1.54- 28.8; P = 0.005). In conclusion, APC mutation plays a role in adenoma progression; its frequency is significantly higher in lesions with a more villous morphology.

Original languageEnglish
Pages (from-to)3553-3556
Number of pages4
JournalCancer Research
Volume54
Issue number13
Publication statusPublished - Jul 1 1994

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APC Genes
Adenoma
Mutation
Genes
Villous Adenoma
Colonic Polyps
Nonsense Codon
Polyps
Multivariate Analysis
Odds Ratio

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

De Benedetti, L., Sciallero, S., Gismondi, V., James, R., Bafico, A., Biticchi, R., ... Ferrara, G. B. (1994). Association of APC gene mutations and histological characteristics of colorectal adenomas. Cancer Research, 54(13), 3553-3556.

Association of APC gene mutations and histological characteristics of colorectal adenomas. / De Benedetti, Laura; Sciallero, Stefania; Gismondi, Viviana; James, Rosella; Bafico, Anna; Biticchi, Roberta; Masetti, Emiliana; Bonelli, Luigina; Heouaine, Abdelhamid; Picasso, Massimo; Groden, Joanna; Robertson, Margaret; Risio, Mauro; Caprilli, Renzo; Bruzzi, Paolo; White, Raymond L.; Aste, Hugo; Santi, Leonardo; Varesco, Liliana; Ferrara, Giovannni Battista.

In: Cancer Research, Vol. 54, No. 13, 01.07.1994, p. 3553-3556.

Research output: Contribution to journalArticle

De Benedetti, L, Sciallero, S, Gismondi, V, James, R, Bafico, A, Biticchi, R, Masetti, E, Bonelli, L, Heouaine, A, Picasso, M, Groden, J, Robertson, M, Risio, M, Caprilli, R, Bruzzi, P, White, RL, Aste, H, Santi, L, Varesco, L & Ferrara, GB 1994, 'Association of APC gene mutations and histological characteristics of colorectal adenomas', Cancer Research, vol. 54, no. 13, pp. 3553-3556.
De Benedetti, Laura ; Sciallero, Stefania ; Gismondi, Viviana ; James, Rosella ; Bafico, Anna ; Biticchi, Roberta ; Masetti, Emiliana ; Bonelli, Luigina ; Heouaine, Abdelhamid ; Picasso, Massimo ; Groden, Joanna ; Robertson, Margaret ; Risio, Mauro ; Caprilli, Renzo ; Bruzzi, Paolo ; White, Raymond L. ; Aste, Hugo ; Santi, Leonardo ; Varesco, Liliana ; Ferrara, Giovannni Battista. / Association of APC gene mutations and histological characteristics of colorectal adenomas. In: Cancer Research. 1994 ; Vol. 54, No. 13. pp. 3553-3556.
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abstract = "Fifty-nine colonic adenomas and 6 hyperplastic colonic polyps were analyzed by single-strand conformation polymorphism analysis for mutations in the adenomatous polyposis coli gene (APC). Frameshifts and premature stop codons in at least one copy of APC were detected in 25 of these adenomas. Five adenomas carried 2 APC mutations. No mutations in APC were found in any of the 6 hyperplastic polyps. The detection of APC mutations increased with size and degree of dysplasia and in rectal as compared to colonic adenomas, although the association was not statistically significant. The frequency of detectable APC mutations was higher in tubulovillous and villous adenomas (10 of 13) than in tubular adenomas (15 of 45) (odds ratio, 6.67; 95{\%} confidence limits, 1.39-41.83; P = 0.005). The significance of the association between the detection of APC mutations and a villous architecture was confirmed in multivariate analysis (relative risk, 6.67; 95{\%} confidence limits, 1.54- 28.8; P = 0.005). In conclusion, APC mutation plays a role in adenoma progression; its frequency is significantly higher in lesions with a more villous morphology.",
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