52
Views
0
CrossRef citations to date
0
Altmetric
CORRESPONDENCE

A novel frameshift mutation in the APC gene at exon 15 in familial adenomatous polyposis (FAP) with desmoid tumour

, , , &
Pages 788-790 | Received 18 Dec 2006, Published online: 08 Jul 2009

References

  • Reitamo JJ, Hayry P, Nykyri E, Saxen E. The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. Am J Clin Pathol 1982; 77: 665–73
  • Latchford AR, Sturt NJ, Neale K, Rogers PA, Philips RK. A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposis. Br J Surg. 2006; 93: 1258–64
  • Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Boker T, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995; 4: 337–40
  • Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 1986; 25: 473–6
  • Bodmer WF, Bailey CJ, Bodmer J, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987; 328: 614–6
  • Munemitsu S, Albert I, Souza B, Rubinfeld B, Polakis P. Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein. Proc Natl Acad Sci USA 1995; 92: 3046–50
  • Nathke IS, Adams CL, Polakis P, Sellin JH, Nelson WJ. The adenomatous polyposis coli tumor suppressor protein localizes to plasma membrane sites involved in active cell migration. J Cell Biol 1996; 134: 165–79
  • Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet 1962; 14: 376–90
  • Arvanitis ML, Jagelman DG, Fazio VW, Lavery IC, McGannon E. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 639–42
  • van der Luijt RB, Khan PM, Vasen HFA, Breukel C, Tops CMJ, Scott RJ, et al. Germline mutations in the 3-prime part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 1996; 98: 727–34

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.