WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.

ABSTRACT:

Background

Patients with PTEN hamartoma tumor syndrome (PHTS) have germline mutations in the tumor-suppressor gene encoding phosphatase and tensin homologue (PTEN). Such mutations have been associated with a hereditary predisposition to multiple types of cancer, including the Cowden syndrome. However, a majority of patients who have PHTS-related phenotypes have tested negative for PTEN mutations. In a previous study, we found that the E3 ubiquitin ligase WWP1 negatively regulates the function of PTEN.

Methods

In a prospective cohort study conducted from 2005 through 2015, we enrolled 431 patients with wild-type PTEN who met at least the relaxed diagnostic criteria of the International Cowden Consortium. Patients were scanned for WWP1 germli

SUBMITTER: Lee YR 

PROVIDER: S-EPMC7839065 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature