Article
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Clinical genetics - 1 Jan 2011
Smit D L, Mensenkamp A R, Badeloe S, Breuning M H, Simon M E H, van Spaendonck K Y, Aalfs C M, Post J G, Shanley S, Krapels I P C, Hoefsloot L H, van Moorselaar R J A, Starink T M, Bayley J-P, Frank J, van Steensel M A M, Menko F H
Abstract excerpt
Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal cell cancer (HLRCC), an autosomal dominant syndrome characterized by multiple cutaneous piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer. The main objective of our study was to evaluate clinical and genetic data from families suspected of HLRCC on a nationwide level. All families referred for FH...
Topics
- Adolescent
- Adult
- Carcinoma, Renal Cell
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Fumarate Hydratase
- Genetic Predisposition to Disease
- Germ-Line Mutation