Article
Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.
International journal of cancer - 15 Mar 2006
Kokko Antti, Ylisaukko-Oja Sanna S K, Kiuru Maija, Takatalo Maarit S, Salmikangas Paula, Tuimala Jarno, Arango Diego, Karhu Auli, Aaltonen Lauri A, Jäntti Jussi
Abstract excerpt
Heterozygous mutations in the fumarase (FH) gene cause the tumor predisposition syndrome hereditary leiomyomatosis and renal cell cancer (MIM 605839). While most families segregate a benign phenotype of multiple leiomyomas, others display a phenotype with early-onset renal cancer and leiomyosarcoma. Modifier genes may play a role in this, but an alternative explanation is simple genotype-phenotype association. FH...
Topics
- Cell Division
- Fumarate Hydratase
- Gene Expression Profiling
- Gene Expression Regulation, Enzymologic
- Gene Expression Regulation, Fungal
- Genetic Predisposition to Disease
- Glucose
- Humans
- Mutation
- Mutation, Missense
- Neoplasms
- Oligonucleotide Array Sequence Analysis