13
Views
3
CrossRef citations to date
0
Altmetric
Original Article

Clinical Findings in a Family with Familial Adenomatous Polyposis and a Missense Mutation of the Adenomatous Polyposis Coli Gene

, , , , , , , , , , & show all
Pages 917-920 | Received 10 Jan 1996, Accepted 05 May 1996, Published online: 08 Jul 2009

References

  • Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertson H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589–600
  • Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, et al. Identification of deletion mutations and three new genes at the familial plyposis locus. Cell 1991; 66: 601–13
  • Kinzler K W, Nilbert M C, Su L K, Vogelstein B, Bryan T M, Levy D B, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: 661–5
  • Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991; 253: 665–9
  • Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993; 2: 425–34
  • Joslyn G, Richardson D, White R, Alber T. Dimer formation by an N‐terminal coiled coil in the APC protein. Proc Natl Acad Sci USA 1993; 90: 11109–13
  • Rubinfeld B, Souza B, Albert I, Muller O, Chamberlain S H, Masiarz F R, et al. Association of the APC gene product with beta‐catenin. Science 1993; 262: 1731–4
  • Su L K, Vogelstein B, Kinzler K W. Association of the APC tumor suppressor protein with catenins. Science 1993; 262: 1734–7
  • Smith K J, Levy D B, Maupin P, Pollard T D, Vogelstein B, Kinzler K. Wild type but not mutant APC associates with microtubule cytoscheleton. Cancer Res 1994; 54: 3672–5
  • Munemitsu S, Souza B, Muller O, Albert I, Rubinfeld B, Polakis P. The APC gene product associates with microtubules in vivo and promotes their assembly in vitro. Cancer Res 1994; 54: 3676–81
  • Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993; 75: 951–7
  • Caspari R, Friedl W, Mandl M, Moslein G, Kadmon M, Knapp M, et al. Familial adenomatous polyposis: mutations at codon 1309 and early onset of colon cancer. Lancet 1994; 343: 629–32
  • Olschwang S, Tiret A, Laurent‐Puig P, Muleris M, Parc R, Thomas G. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 1993; 75: 959–68
  • 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
  • Berk T, Cohen Z, McLeod R S, Parker J A. Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum 1988; 31: 253–7
  • Stella A, Montera M, Resta N, Marchese C, Susca F, Gentile M, et al. Four novel mutations of the APC gene in FAP patients. Human Mol Genet 1994; 3: 1687–8
  • Dobbie Z, Spycher M, Hürliman R, Ammann R, Ammann T, Roth J, et al. Mutational analysis of the first 14 exons of the adenomatous polyposis coli gene (APC). Eur J Cancer 1994; 30A: 1709–13
  • Dobbie Z, Spycher M, Mary J L, Haner M, Guldenschuh, Hurliman R, et al. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet 1996; 33: 274–80
  • Scott R J, van der Luijt R, Spycher M, Mary J L, Muller A, Hoppeler T, et al. Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 1995; 36: 731–6

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.