Frequent mutations in the β-catenin gene in desmoid tumors from patients without familial adenomatous polyposis

Oncology Research

Volumn 10, Issue 11-12, 1998, Pages 591-594

  Miyoshi, Yasuo ^a   Iwao, Kyoko ^a   Nawa, Gen ^b   Yoshikawa, Hideki ^c   Ochi, Takahiro ^d   Nakamura, Yusuke ^d  

^a Department of Medical Genetics ^*

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c OSAKA MEDICAL CENTER FOR CANCER AND CARDIOVASCULAR DISEASES   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Desmoid tumor; FAP; Somatic mutation; catenin

Indexed keywords

BETA CATENIN; CTNNB1 PROTEIN, HUMAN; CYTOSKELETON PROTEIN; TRANSACTIVATOR PROTEIN;

ARTICLE; COLON POLYPOSIS; FIBROMATOSIS; GENETICS; HUMAN; MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; WESTERN BLOTTING;

ADENOMATOUS POLYPOSIS COLI; BETA CATENIN; BLOTTING, WESTERN; CYTOSKELETAL PROTEINS; FIBROMATOSIS, AGGRESSIVE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANS-ACTIVATORS;

EID: 0032234682     PISSN: 09650407     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Hunt, R. T. N.; Morgan, H. C.; Ackerman, L. V. Principles in the management of extra-abdominal desmoids. Cancer 13:825; 1960.
2. Gurbuz, A. K.; Giardiello, F. M.; Peterson, G. M.; Krush, A. J.; Offerhaus, G. J.; Booker, S. V.; Kerr, M. C.; Hamilton, S. R. Desmoid tumors in familial adenomatous polyposis. Gut 35:377-381; 1994.
3. Caspari, R.; Olschwang, S.; Friedl, W.; Mandl, M.; Boisson, C.; Böker, T.; Augustin, A.; Kadmon, M.; Möslein, G.; Thomas, G.; Propping, P. Familial adenomatous polyposis: Desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum. Mol. Genet. 4:337-340; 1995.
4. Clark, S. K.; Phillips, R. K. Desmoids in familial adenomatous polyposis. Br. J. Surg. 83:1494-1504; 1996.
5. Eccles, D. M.; van der Luijt, R., Breukel, C.; Bullman, H.; Bunyan, D.; Fisher, A.; Barber, J.; du Boulay, C.; Primrose, J.; Burn, J.; Fodde, R. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am. J. Hum. Genet. 59:1193-1201; 1996.
6. Scott, R. J.; Froggatt, N. J.; Trembath, R. C.; Evans, D. G.; Hodgson, S. V.; Maher, E. R. Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3′ APC gene mutation. Hum. Mol. Genet. 5:1921-1924; 1996.
7. Miyaki, M.; Konishi, M.; Kikuchi-Yanoshita, R.; Enomoto, M.; Tanaka, K.; Takahashi, H.; Muraoka, M.; Mori, T.; Konishi, F.; Iwama, T. Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors. Cancer Res. 53:5079-5082; 1993.
8. Sen-Gupta, S.; van der Luijt R. B.; Bowles, L. V.; Meera Khan, P.; Delhanty, J. D. Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis. Lancet 342:552-553; 1993.
9. Palmirotta, R.; Curia, M. C.; Esposito, D. L.; Valanzano, R.; Messerini, L.; Ficari, F.; Brandi, M. L.; Tonelli, F.; Mariani-Costantini, R.; Battista, P.; Came, A. Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors. Hum. Mol. Genet. 4:1979-1981; 1995.
10. Alman, B. A.; Li, C.; Pajerski, M. E.; Diaz-Cano, S.; Wolfe, H. J. Increased β-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am. J. Pathol. 151:329-334; 1997.
11. Rubinfeld, B.; Souza, B.; Albert, I.; Müller, O.; Chamberlain, S. H.; Masiarz. F. R.; Munemitsu, S.; Polakis, P. Association of the APC gene product with β-catenin. Science 262:1731-1734; 1993.
12. Su, L. K.; Vogelstein, B.; Kinzler, K. W. Association of the APC tumor suppressor protein with catenins. Science 262:1734-1737; 1993.
13. Smith, K.; Levy, D. B.; Maupin, P.; Pollard, T. D.; Vogelstein, V.; Kinzler, K. W. Wild-type but not mutant APC associates with the microtubule cytoskeleton. Cancer Res. 54:3672-3675; 1994.
14. Munemitsu, S.; Souza, B.; Müller, O.; Albert, I.; Rubinfeld, B.; Polakis, P. The APC gene product associates with microtubules in vivo and promotes their assembly in vitro. Cancer Res. 54:3676-3681; 1994.
15. Su, L. K.; Burrell, M.; Hill, D. E.; Gyuris, J.; Brent, R.; Wiltshire, R.; Trent, J.; Vogelstein, B.; Kinzler, K. W. APC binds to the novel protein EB1. Cancer Res. 55:2972-2977; 1995.
16. Rubinfeld, B.; Albert, I.; Porfiri, E.; Fiol, C.; Munemitsu, S.; Polakis, P. Binding of GSK-3β to the APC-β-catenin complex and regulation of complex assembly. Science 272:1023-1026; 1996.
17. Matsumine, A.; Ogai, A.; Senda, T.; Okumura, N.; Satoh, K.; Baeg, G. H.; Kawahara, T.; Kobayashi, S.; Okada, M.; Toyoshima, K.; Akiyama, T. Binding of APC to the human homolog of the Drosophila discs large tumor suppressor protein. Science 272:1020-1023; 1996.
18. Nakamura, Y. Cleaning up on beta-catenin. Nat. Med. 3:499-500; 1997.
19. Iwao, K.; Nakamori, S.; Kameyama, M.; Imaoka, S.; Kinoshita, M.; Fukui, T.; Ishiguro, S.; Nakamura, Y.; Miyoshi, Y. Activation of the β-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. Cancer Res. 58:1021-1026; 1998.
20. Sparks, A. B.; Morin, P. J.; Vogelstein, B.; Kinzler, K. W. Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res. 58:1130-1134; 1998.
21. Groden, J.; Thliveris, A.; Samowitz, W.; Carlson, M.; Gelbert, L.; Albertsen, H.; Joslyn, G.; Stevens, J.; Spirio, L.; Robertson, M.; Sargeant, L.; Krapcho, K.; Wolff, E.; Burt, R.; Hunghes, J. P.; Warrington, J.; McPherson, J.; Wasmuth, J.; Le Paslier, D.; Abderrahim, H.; Cohen, D.; Leppert, M.; White, R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600; 1991.
22. Morin, P. J.; Spark, A. B.; Korinek, V.; Barker, N.; Clevers, H.; Vogelstein, B.; Kinzler, K. W. Activation of β-catenin-Tcf signaling in colon cancer by mutations in β-catenin or APC. Science 275:1787-1790; 1997.
23. Rubinfeld, B.; Robbins, P.; El-Gamil, M.; Albert, I.; Porfiri, E.; Polakis, P. Stabilization of β-catenin by genetic defects in melanoma cell lines. Science 275:1790-1792; 1997.
24. Miyoshi, Y.; Iwao, K.; Nagasawa, Y.; Aihara, T.; Sasaki, Y.; Imaoka, S.; Murata, M.; Shimano, T.; Nakamura, Y. Activation of the β-catenin gene in primary hepatocellular carcinomas by somatic alterations involving exon 3. Cancer Res. 58:2524-2527; 1998.
25. Yost, C.; Torres, M.; Miller, J. R.; Huang, E.; Kimelman, D.; Moon, R. T. The axis-inducing activity, stability, and subcellular distribution of β-catenin is regulated in Xenopus embryos by glycogen synthase kinase 3. Genes Dey. 10:1443-1454; 1996.
26. Munemitsu, S.; Albert, I.; Rubinfeld, B.; Polakis, P. Deletion of an amino-terminal sequence beta-catenin in vivo and promotes hyper-phosphorylation of the adenomatous polyposis coli tumor suppressor protein. Mol. Cell. Biol. 16:4088-4094; 1996.
27. Aberle, H.; Bauer, A.; Stappert, J.; Kispert, A.; Kemler, R. β-catenin is a target for the ubiquitin-proteasome pathway. EMBO J. 16:3797-3804; 1997.
28. Korinek, V.; Barker, N.; Morin, P. J.; Wichen, D.; Weger, R.; Kinzler, K. W.; Vogelstein, B.; Clevers, H. Constitutive transcriptional activation by a β-catenin-Tcf complex in APC -/- colon carcinoma. Science 275:1784-1787; 1997.
29. Ikeda, S.; Kishida, S.; Yamamoto, H.; Murai, H.; Koyama, S.; Kikuchi, A. Axin, a negative regulator of the Wnt signaling pathway, forms a complex with GSK-β-dependent phosphorylation of β-catenin. EMBO J. 17:1371-1384; 1998.
30. Behrens, J.; Jerchow, B.-A.; Würfele, M.; Grimm, J.; Asbrand, C.; Wirtz, R.; Kühl, M.; Wedlich, D.; Birchmeier, W. Functional interaction of an axin homolog, conductin, with β-catenin, APC, and GSK-3β. Science 280:596-599; 1998.