Article
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Journal of medical genetics - 1 Nov 1998
Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps J L, Bottani A, Lacombe D, Bonneau D
Abstract excerpt
We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which in...
Topics
- Adolescent
- Adult
- Child
- Exons
- Female
- Genes, Tumor Suppressor
- Hamartoma Syndrome, Multiple
- Humans
- Male
- Middle Aged
- Mutation
- Neoplastic Syndromes, Hereditary
- PTEN Phosphohydrolase
- Pedigree
- Phenotype
- Phosphoric Monoester Hydrolases