Article
Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.
International journal of oncology - 1 Oct 1998
Scala S, Bruni P, Lo Muzio L, Mignogna M, Viglietto G, Fusco A
Abstract excerpt
Cowden disease (CD) is an autosomal dominant multiple hamartoma syndrome with an elevated risk of thyroid and breast cancers. The CD susceptibility gene has recently been identified as the PTEN/MMAC1/TEP1 gene localized at 10q23 and coding for a dual specificity protein phosphatase. We report the...
Topics
- Adolescent
- Alleles
- Binding Sites
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Family Health
- Female
- Gene Expression
- Genes
- Germ-Line Mutation
- Goiter
- Hamartoma Syndrome, Multiple
- Humans
- Italy
- Lymphocytes
- Male
- Middle Aged
- PTEN Phosphohydrolase