Ontology highlight
ABSTRACT:
SUBMITTER: Valimaki N
PROVIDER: S-EPMC10027472 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Välimäki Niko N Jokinen Vilja V Cajuso Tatiana T Kuisma Heli H Taira Aurora A Dagnaud Olivia O Ilves Sini S Kaukomaa Jaana J Pasanen Annukka A Palin Kimmo K Heikinheimo Oskari O Bützow Ralf R Aaltonen Lauri A LA Karhu Auli A
American journal of human genetics 20230210 3
Uterine leiomyomas (ULs) are benign smooth muscle tumors that are common in premenopausal women. Somatic alterations in MED12, HMGA2, FH, genes encoding subunits of the SRCAP complex, and genes involved in Cullin 3-RING E3 ligase neddylation are mutually exclusive UL drivers. Established predisposition genes explain only partially the estimated heritability of leiomyomas. Here, we examined loss-of-function variants across 18,899 genes in a cohort of 233,614 White European women, revealing varian ...[more]