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Article

Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas.

American journal of human genetics - 2 Mar 2023

Välimäki Niko, Jokinen Vilja, Cajuso Tatiana, Kuisma Heli, Taira Aurora, Dagnaud Olivia, Ilves Sini, Kaukomaa Jaana, Pasanen Annukka, Palin Kimmo, Heikinheimo Oskari, Bützow Ralf, Aaltonen Lauri A, Karhu Auli

Abstract excerpt

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...

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Identifiers

PMID: 36773604
DOI: 10.1016/j.ajhg.2023.01.009
PMCID: PMC10027472

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