title: [Genetic factors in etiology of uterine fibroids].
abstract: Uterine fibroids are the most common pelvic tumors in women of reproductive age. The cause of development of uterine fibroids is still unknown, however recent cytogenetic and genetic studies led to advancement in understanding of etiology of these tumors. In accordance with the latest findings up to 40% of uterine fibroids bear some chromosomal abnormalities. The most common are aberration of chromosomes 6, 7, 12 and 14. Uterine fibroids have been linked to mutations of fumarate hydratase (FH) gene. Germline mutations in FH gene cause autosomal dominant syndromes MCUL1 (multiple cutaneous and uterine leiomyomata) and HLRCC (hereditary leiomyomatosis and renal cell cancer), characterized by multiple uterine and cutaneous leiomyomata and renal cancer. This paper reviews recent findings in the role of genetic in etiology of uterine fibroids.
authors.affiliation: Gynekologicko-porodnická klinika VFN a 1. LF UK, Praha. kristynakubinova@gmail.com
authors.forename: K
authors.initials: K
authors.lastname: Kubínová
authors.forename: M
authors.initials: M
authors.lastname: Mára
authors.forename: P
authors.initials: P
authors.lastname: Horák
authors.forename: D
authors.initials: D
authors.lastname: Kuzel
mesh_terms: D002869:Chromosome Aberrations; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D009154:Mutation; D014178:Translocation, Genetic
chemical_list: D005649:Fumarate Hydratase