Article
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.
Gastroenterology - 1 Nov 1998
Chi S G, Kim H J, Park B J, Min H J, Park J H, Kim Y W, Dong S H, Kim B H, Lee J I, Chang Y W, Chang R, Kim W K, Yang M H
Abstract excerpt
BACKGROUND & AIMS: To understand the molecular etiology of Cowden disease-associated gastrointestinal polyps, we analyzed the mutational status of PTEN/MMAC1, a recently identified Cowden disease gene located at 10q23, in gastric hamartomas, colonic adenoma, and juvenile polyps of 3 patients with...
Topics
- Adolescent
- Adult
- Alleles
- Female
- Gastrointestinal Diseases
- Gene Deletion
- Gene Expression Regulation
- Germ-Line Mutation
- Hamartoma Syndrome, Multiple
- Humans
- Methylation
- Mutation
- Mutation, Missense
- PTEN Phosphohydrolase