An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients

Familial Cancer

Volumn 6, Issue 1, 2007, Pages 89-95

  Li, Catherine F ^a   Wei, Robert Y ^a   Baliko, Frank ^a   Bapat, Bharati ^b   Alman, Benjamin A ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

Author keywords

4G 5G polymorphism; Aggressive fibromatosis; Familial adenomatous polyposis; Plasminogen activator inhibitor 1

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 1;

ADENOMATOUS POLYP; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DESMOID TUMOR; DISEASE COURSE; FAMILIAL CANCER; FAMILIAL INCIDENCE; FIBROMATOSIS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ADENOMATOUS POLYPOSIS COLI; ADULT; CAUSALITY; COMORBIDITY; FIBROMATOSIS, AGGRESSIVE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); SEVERITY OF ILLNESS INDEX; TRANS-ACTIVATION (GENETICS);

MUS MUSCULUS;

EID: 33847158331     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-006-9109-5     Document Type: Article

References (51)

1. Groden J, Thliveris A, Samowitz W, et al (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600
2. Kinzler KW, Nilbert MC, Su LK, et al (1991) Identification of FAP locus genes from chromosome 5q21. Science 253(5020):661-665
3. Dormans JP, Spiegel D, Meyer J, et al (2001) Fibromatoses in childhood: the desmoid/fibromatosis complex. Med Pediatr Oncol 37:126-131
4. Alman BA, Pajerski ME, Diaz-Cano S, et al (1997) Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder. Diag Mol Pathol 6(2):98-101
5. Scott RJ, Froggatt NJ, Trembath RC, et al (1996) Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3′ APC gene mutation. Hum Mol Genet 5(12):1921-1924
6. Alman BA, Li C, Pajerski ME (1997) Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol 151(2):329-334
7. Tejpar S, Li C, Yu C, et al (2001) Tcf-3 expression and beta-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour). Br J Cancer 85:98-101
8. Tejpar S, Nollet F, Li C, et al (1999) Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 18(47):6615-6620
9. Miller JR, Hocking AM, Brown JD, et al (1999) Mechanism and function of signal transduction by the Wnt/beta-catenin and Wnt/Ca2+ pathways. Oncogene 18:7860-7872
10. Roose J, Clevers H (1999) TCF transcription factors: molecular switches in carcinogenesis. Biochim Biophys Acta 1424:M23-M37
11. Cheon SS, Cheah AY, Turley S, et al (2002) beta-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous wounds. Proc Natl Acad Sci U S A 99(10):6973-6978
12. Bertario L, Russo A, Sala P, et al (2001) Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 95(2):102-107
13. Bertario L, Russo A, Sala P, et al (2003) Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21(9):1698-1707
14. Nugent KP, Phillips RK, Hodgson SV, et al (1994) Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis. Gut 35(11):1622-1623
15. Davies DR, Armstrong JG, Thakker N, et al (1995) Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet 57(5):1151-1158
16. Gebert JF, Dupon C, Kadmon M, et al (1999) Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. Ann Surg 229(3):350-361
17. Caspari R, Olschwang S, Friedl W, et al (1995) Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4(3):337-340
18. Eccles DM, van der Luijt R, Breukel C, et al (1996) Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 59(6):1193-1201
19. Gardner RJ, Kool D, Edkins E, et al (1997) The clinical correlates of a 3′ truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene. Gastroenterology 113(1):326-331
20. Couture J, Mitri A, Lagace R, et al (2000) A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet 57(3):205-212
21. Fodde R, Khan P (1995) Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog 6:291-303
22. Houlston R, Crabtree M, Phillips R, et al (2001) Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes. Gut 48(1):1-5
23. Li CF, Kandel C, Baliko F, et al (2005) Plasminogen activator inhibitor-1 (PAI-1) modifies the formation of aggressive fibromatosis (desmoid tumor). Oncogene 24(9):1615-1624
24. Preissner KT, May AE, Wohn KD, et al (1997) Molecular crosstalk between adhesion receptors and proteolytic cascades in vascular remodelling. Thromb Haemost 78(1):88-95
25. Nykjaer A, Conese M, Christensen EI, et al (1997) Recycling of the urokinase receptor upon internalization of the uPA:serpin complexes. EMBO J 16(10):2610-2620
26. Kwaan HC, Wang J, Svoboda K, et al (2000) Plasminogen activator inhibitor 1 may promote tumour growth through inhibition of apoptosis. Br J Cancer 82(10):1702-1708
27. Bajou K, Noel A, Gerard RD, et al (1998) Absence of host plasminogen activator inhibitor 1 prevents cancer invasion and vascularization. Nat Med 4(8):923-928
28. Rakic JM, Maillard C, Jost M, et al (2003) Role of plasminogen activator-plasmin system in tumor angiogenesis. Cell Mol Life Sci 60(3):463-473
29. Descheemaeker KA, Wyns S, Nelles L, et al (1992) Interaction of AP-1-, AP-2-, and Sp1-like proteins with two distinct sites in the upstream regulatory region of the plasminogen activator inhibitor-1 gene mediates the phorbol 12-myristate 13-acetate response. J Biol Chem 267:15086-15091
30. Kunz C, Pebler S, Otte J, et al (1995) Differential regulation of plasminogen activator and inhibitor gene transcription by the tumor suppressor p53. Nucleic Acids Res 23:3710-3717
31. Dennler S, Itoh S, Vivien D, et al (1998) Direct binding of Smad3 and Smad4 to critical TGF beta-inducible elements in the promoter of human plasminogen activator inhibitor-type 1 gene. EMBO J 17(11):3091-3100
32. Eriksson P, Kallin B, van 't Hooft FM, et al (1995) Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci U S A 92(6):1851-1855
33. Henry M, Chomiki N, Scarabin PY, et al (1997) Five frequent polymorphrism of the PAI-1 gene. Lack of association between genotypes, PAI activity, and triglyceride levels in a healthy population. Arterioscler Thromb Vasc Biol 17:851-858
34. Diamanti-Kandarakis E, Palioniko G, Alexandraki K, et al (2004) The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels. Eur J Endocrinol 150(6):793-798
35. Tassies D, Espinosa G, Munoz-Rodriguez FJ, et al (2000) The 4G/5G polymorphism of the type 1 plasminogen activator inhibitor gene and thrombosis in patients with antiphospholipid syndrome. Arthritis Rheum 43(10):2349-2358
36. Menges T, Hermans PW, Little SG, et al (2001) Plasminogen-activator- inhibitor-1 4G/5G promoter polymorphism and prognosis of severely injured patients. Lancet 357(9262):1096-1097
37. Alvarez-Millan JJ, Bocos C, Ferrin V, et al (2002) PAI-1 promoter polymorphism modulates uPA-PAI complex accumulation by breast cancer cells. Oncology 62(3):286-290
38. Loktionov A, Watson MA, Stebbings WS, et al (2003) Plasminogen activator inhibitor-1 gene polymorphism and colorectal cancer risk and prognosis. Cancer Lett 189(2):189-196
39. Balta G, Altay C, Gurgey A (2003) Prevalence of PAI-1 gene 4G/5G genotype in Azerbaijan and Kyrgyzstan populations: literature review. J Thromb Haemost 1(4):858-859
40. Ghadirian P, Liu G, Gallinger S, Schmocker B, Paradis AJ, Lal G, Brunet JS, Foulkes WD, Narod SA (2002). Risk of pancreatic cancer among individuals with a family history of cancer of the pancreas. Int J Cancer 97(6):807-810
41. Soravia C, Berk T, Madlensky L, et al (1998) Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 62:1290-1301
42. Margaglione M, Grandone E, Cappucci G, et al (1997) An alternative method for PAI-1 promoter polymorphism (4G/5G) typing. Thromb Haemost 77(3):605-606
43. Agresti A (1996) An introduction to categorical data analysis. John Wiley and Sons, Inc., New York
44. Berrueta L, Kraeft SK, Tirnauer JS, et al (1998) The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules. Proc Natl Acad Sci U S A 95(18):10596-10601
45. Morrison EE, Wardleworth BN, Askham JM, et al (1998) EB1, a protein which interacts with the APC tumour suppressor, is associated with the microtubule cytoskeleton throughout the cell cycle. Oncogene 17(26):3471-3477
46. Juwana JP, Henderikx P, Mischo A, et al (1999) EB/RP gene family encodes tubulin binding proteins. Int J Cancer 81(2):275-284
47. Baeg GH, Matsumine A, Kuroda T, et al (1995) The tumour suppressor gene product APC blocks cell cycle progression from G0/G1 to S phase. EMBO J 14(22):5618-5625
48. Ishidate T, Matsumine A, Toyoshima K, et al (2000) The APC-hDLG complex negatively regulates cell cycle progression from the G0/G1 to S phase. Oncogene 19(3):365-372
49. Sturt NJ, Gallagher MC, Bassett P, et al (2004) Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut 53(12):1832-1836
50. Dietrich WF, Lander ES, Smith JS, et al (1993) Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 75(4):631-639
51. Halberg RB, Katzung DS, Hoff PD, et al (2000) Tumorigenesis in the multiple intestinal neoplasia mouse: redundancy of negative regulators and specificity of modifiers. Proc Natl Acad Sci U S A 97(7):3461-3466