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

Publication ,  Journal Article
Li, CF; Wei, RY; Baliko, F; Bapat, B; Alman, BA
Published in: Fam Cancer
2007

Aggressive fibromatosis is a mesenchymal neoplasm associated with mutations resulting in beta-catenin mediated transcriptional activation. Plasminogen activator inhibitor-1 (PAI-1) is expressed at a high level in aggressive fibromatosis, and using transgenic mice, we found that PAI-1 plays an important role in aggressive fibromatosis tumor formation. Familial adenomatous polyposis is associated with Adenomatous Polyposis Coli gene mutations resulting in beta-catenin mediated transcriptional activation, yet only some patients develop aggressive fibromatosis. Since PAI-1 expression is influenced by a promoter 4G/5G polymorphism, we investigated the incidence of this polymorphism in familial adenomatous polyposis patients who did and who did not develop aggressive fibromatosis, as well as sporadic aggressive fibromatosis patients. There was a trend towards association of the 4G allele (associated with high PAI-1 expression) with the development of aggressive fibromatosis in familial adenomatous polyposis patients (50% vs. 19%, P = 0.1). In familial adenomatous polyposis patients who did not develop aggressive fibromatosis, there was a significantly lower proportion of patients with a 4G allele compared to the healthy control (19% vs. 51%, P = 0.0286). The lower incidence of 4G polymorphism in the PAI-1 promoter may be preventive against the development of aggressive fibromatosis. This data provides additional evidence supporting an important role for PAI-1 in the pathogenesis of aggressive fibromatosis.

Duke Scholars

Published In

Fam Cancer

DOI

ISSN

1389-9600

Publication Date

2007

Volume

6

Issue

1

Start / End Page

89 / 95

Location

Netherlands

Related Subject Headings

  • Transcriptional Activation
  • Severity of Illness Index
  • Promoter Regions, Genetic
  • Polymorphism, Genetic
  • Plasminogen Activator Inhibitor 1
  • Oncology & Carcinogenesis
  • Incidence
  • Humans
  • Genetic Predisposition to Disease
  • Gene Expression Regulation, Neoplastic
 

Citation

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MLA
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Li, C. F., Wei, R. Y., Baliko, F., Bapat, B., & Alman, B. A. (2007). An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients. Fam Cancer, 6(1), 89–95. https://doi.org/10.1007/s10689-006-9109-5
Li, Catherine F., Robert Y. Wei, Frank Baliko, Bharati Bapat, and Benjamin A. Alman. “An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients.Fam Cancer 6, no. 1 (2007): 89–95. https://doi.org/10.1007/s10689-006-9109-5.
Li, Catherine F., et al. “An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients.Fam Cancer, vol. 6, no. 1, 2007, pp. 89–95. Pubmed, doi:10.1007/s10689-006-9109-5.
Journal cover image

Published In

Fam Cancer

DOI

ISSN

1389-9600

Publication Date

2007

Volume

6

Issue

1

Start / End Page

89 / 95

Location

Netherlands

Related Subject Headings

  • Transcriptional Activation
  • Severity of Illness Index
  • Promoter Regions, Genetic
  • Polymorphism, Genetic
  • Plasminogen Activator Inhibitor 1
  • Oncology & Carcinogenesis
  • Incidence
  • Humans
  • Genetic Predisposition to Disease
  • Gene Expression Regulation, Neoplastic