[Cowden disease].

Journal Article (Journal Article;Review)

Cowden disease is an autosomal dominant disorder associated with an increased risk of developing benign and malignant tumors in many organ systems including the breast, thyroid, skin, central nervous system and gastrointestinal tract. Recently, germline mutations in PTEN (also known as MMAC1/TEP1) have been identified on chromosome 10q23 in Cowden disease patients. This gene is suggested to be a tumor suppressor gene, because coding-region mutations are observed in several tumor specimens or tumor cell lines. PTEN functions as a dual specificity phosphatase and lipid phosphatase. PTEN appears to negatively control the phosphoinositide 3-kinase signaling pathway for regulation of cell growth and survival. Furthermore, PTEN may also inhibit cell migration, spreading, and focal adhesion by interacting with the focal adhesion kinase.

Full Text

Duke Authors

Cited Authors

  • Sawada, T; Hamano, N; Suzuki, A; Okada, T; Mabuchi, H

Published Date

  • July 2000

Published In

Volume / Issue

  • 58 / 7

Start / End Page

  • 1479 - 1483

PubMed ID

  • 10921327

International Standard Serial Number (ISSN)

  • 0047-1852


  • jpn

Conference Location

  • Japan