Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours

M. Giarola, D. Wells, P. Mondini, S. Pilotti, P. Sala, A. Azzarelli, L. Bertario, M. A. Pierotti, J. D A Delhanty, P. Radice

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Abstract

Desmoids are locally aggressive, non-metastasizing soft-tissue tumours, whose aetiology is still unclear. In patients affected with familial adenomatous polyposis (FAP), the incidence of desmoids is much higher than in the general population. The APC gene, which is responsible for FAP, is involved in the development of desmoids associated with this syndrome. In this study 16 sporadic and four FAP-related desmoids were analysed in order to investigate the possible involvement of APC in non-syndromic cases also. The 5' end (exons 1-11) and the coding portion of exon 15 of APC were screened using the in vitro synthesized-protein assay (IVSP). Exons 5, 6, 8-14, and a region of exon 15 spanning codons 1036-1634 were investigated by single-strand conformation polymorphism (SSCP) analysis. APC germline mutations were identified in all FAP patients, but not in sporadic cases. Somatic mutations were found in three FAP-associated desmoids (75%) and two sporadic tumours (12.5%). In one of the [alter cases, both alleles were affected. These findings indicate a limited role of the gene in the development of desmoid tumours outside FAP.

Original languageEnglish
Pages (from-to)582-587
Number of pages6
JournalBritish Journal of Cancer
Volume78
Issue number5
Publication statusPublished - Sep 1998

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APC Genes
Aggressive Fibromatosis
Adenomatous Polyposis Coli
Mutation
Neoplasms
Exons
Germ-Line Mutation
Codon
Alleles

Keywords

  • APC
  • Desmoid
  • DNA mutation

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Giarola, M., Wells, D., Mondini, P., Pilotti, S., Sala, P., Azzarelli, A., ... Radice, P. (1998). Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. British Journal of Cancer, 78(5), 582-587.

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. / Giarola, M.; Wells, D.; Mondini, P.; Pilotti, S.; Sala, P.; Azzarelli, A.; Bertario, L.; Pierotti, M. A.; Delhanty, J. D A; Radice, P.

In: British Journal of Cancer, Vol. 78, No. 5, 09.1998, p. 582-587.

Research output: Contribution to journalArticle

Giarola, M, Wells, D, Mondini, P, Pilotti, S, Sala, P, Azzarelli, A, Bertario, L, Pierotti, MA, Delhanty, JDA & Radice, P 1998, 'Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours', British Journal of Cancer, vol. 78, no. 5, pp. 582-587.
Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A et al. Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. British Journal of Cancer. 1998 Sep;78(5):582-587.
Giarola, M. ; Wells, D. ; Mondini, P. ; Pilotti, S. ; Sala, P. ; Azzarelli, A. ; Bertario, L. ; Pierotti, M. A. ; Delhanty, J. D A ; Radice, P. / Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. In: British Journal of Cancer. 1998 ; Vol. 78, No. 5. pp. 582-587.
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