Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

Human Genetics

Volumn 97, Issue 5, 1996, Pages 579-584

  Friedl, Waltraut ^a   Meuschel, Stephanie ^a   Caspari, Reiner ^a   Lamberti, Christof ^a   Krieger, Stefan ^b   Sengteller, Marlies ^a   Propping, Peter ^a  

^a UNIVERSITY OF BONN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; COLON POLYPOSIS; DISEASE SEVERITY; FAMILIAL POLYPOSIS; FRAMESHIFT MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MODEL; PHENOTYPE; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION; TUMOR SUPPRESSOR GENE;

EID: 0029897836     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf02281864     Document Type: Article

References (37)

1. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Sheer D, Solomon E, Spurr NK (1987) Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328 : 614-616
2. Caspari R, Friedl W, Mandl M, Möslein G, Kadmon M. Knapp M, Jacobasch K-H, Ecker K-W, Kreißler-Haag D, Timmermanns G, Propping P (1994) Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 343 : 629-632
3. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T, Augustin A, Kadmon M, Möslein G, Thomas G, Propping P (1995) Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4 : 337-340
4. Evans DGR, Guy SP, Thakker N, Armstrong JG, Dodd C, Davies DR, Babbs C, Clancy T, Warnes T, Sloan P, Taylor TV, Harris R (1993) Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis. Gut 43 : 1389-1393
5. Gayther SA, Wells D, SenGupta SB, Chapman P, Neale K, Tsioupra K, Delhanty JDA (1994) Regionally clustered APC mutations are associated with severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 3 : 53-56
6. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeam L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66 : 589-600
7. Hodgson SV, Fagg NLK, Talbot IC, Wilkonson M (1994) Deletions of the entire APC gene are associated with sessile colonic polyps. J Med Genet 31 : 426
8. Joslyn G, Richardson DS, White R, Albert T (1993) Dimer formation by an N-terminal coiled coil in the APC protein. Proc Natl Acad Sci USA 90 : 11109-11113
9. Kinzler KW, Nilbert NC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Ando H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y (1991) Identification of FAP locus genes from chromosome 5q21. Science 253 : 661-665
10. Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68 : 820-823
11. Laird PW, Jackson-Grusby L, Fazeli A, Dickmson SL, Jung WE, Li En, Weinberg RA, Jaenisch R (1995) Suppression of intestinal neoplasia by DNA hypomethylation. Cell 81 : 197-205
12. Levy DB, Smith KJ, Beazer-Barclay Y, Hamilton SR, Vogelstein B, Kinzler KW (1994) Inactivation of both APC alleles in human and mouse tumors. Cancer Res 54 : 5953-5958
13. - in intestinal adenomas from Min mice. Cancer Res 54 : 5947-5952
14. Min-induced intestinal neoplasia. Cell 81 : 957-966
15. Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P (1994) Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum Mol Genet 3 : 181-184
16. Mandl M, Caspari R, Jauch A, Böker T, Raschke H, Sengteller M, Propping P. Friedl W (1996) Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients. Hum Genet 97 : 204-208
17. Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Igari T, Tanaka K, Muraoka M, Takahashi H, Amada Y, Fukayama M, Maeda Y, Iwama T, Mishima Y, Mori T, Koike M (1994) Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res 54 : 3011-3020
18. Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, Mori T, Utsunomiya J, Baba S, Petersen G, Hamilton SR, Kinzler KW, Vogelstein B, Nakamura Y (1992) Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 89 : 4452-4456
19. Munemitsu S, Souza B, Müller O, Albert I, Rubinfeld B, Polakis P (1994) The APC gene product associates with microtubules in vivo and promotes their assembly in vitro. Cancer Res 54 : 3676-3681
20. Munemitsu S, Albert I, Souza B, Rubinfeld B, Polakis P (1995) Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein. Proc Natl Acad Sci USA 92 : 3046-3050
21. Nagase H, Nakamura Y (1993) Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 2 : 425-434
22. Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y (1992) Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52 : 4055-4057
23. Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75 : 959-968
24. Oshima M, Oshima H, Kitagawa K, Kobayashi M, Itakura C, Takcto M (1995a) Loss of APC heterozygosity and abnormal tissue building in nascent intestinal polyps in mice carryine a truncated APC gene. Proc Natl Acad Sci USA 92 : 4482-4486
25. Oshima M, Oshima H, Kobayashi M, Tsutsumi M, Taketo MM (1995b) Evidence against dominant negative mechanisms of intestinal polyp formation by APC gene mutations. Cancer Res 55 : 2719-2722
26. Paffenholz R, Mandl M, Caspari R, Sengteller M, Propping P, Friedl W (1994) Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene. Hum Mol Genet 3: 1703-1704
27. Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, Vogelstein B, Kinzler KW (1992) APC mutations occur early during colorectal tumorigenesis. Nature 359: 235-237
28. Rubinfeld B, Souza B, Alben I, Müller O, Chamberlain SH, Masiarz FR, Munemitsu S, Polakis P (1993) Association of the APC gene product with β-catenin. Science 262 : 1731-1734
29. Scott RJ, Luijt R van der, Spycher M, Mary J-L, Müller A, Hoppeler T, Haner M, Müller HJ, Martinoli S, Brazzola P-L, Meera Khan P (1995) Novel germline APC mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 36 : 731-736
30. Smith KJ, Levy DB, Maupin P. Pollard TD, Vogelstein B, Kinzler KW (1994) Wild-type but not mutant APC associates with the microtubule cytoskeleton. Cancer Res 54 : 3672:3675
31. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H. Watson P, Lynch P, Laurent-Puig P, Burt R, Hughes JP, Thomas G, Leppen M, White R (1993) Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75 : 951-957
32. Su LK, Johnson KA, Smith KJ, Hill DE, Vogelstein B, Kinzler KW (1993 a) Association between wild type and mutant APC gene products. Cancer Res 53 : 2728-2731
33. Su LK, Vogelstein B, Kinzler KW (1993b) Association of the APC tumor suppressor protein with catenins. Science 262: 1734-1737
34. Su LK, Burrell M, Hill DE, Gyuris J, Brent R. Wiltshire R, Trent J, Vogelstein B, Kinzler KW (1995) APC bmds to the novel protein EB1. Cancer Res 55 : 2972-2977
35. Varesco L, Gismondo V, Presciuttini S, Groden J, Spirio L, Sala P, Rossetti C, De Benedetti L, Bafico A, Heouaine A, Grammatico P, Del Porto G, White R, Bertario L, Ferrara GB (1994) Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death. Hum Genel 93 : 281-286
36. Vogeistein B, Kinzler KW (1993) The multistep nature of cancer. Trends Genet 9 : 138-141
37. Wallis YL. Macdonald F, Hulten M, Morton JEV, McKeown CM. Neoptolemos JP, Keighley M, Morton DG (1994) Genotypephenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Genet 94 : 543-548