Ontology highlight
ABSTRACT:
SUBMITTER: Hillman RT
PROVIDER: S-EPMC6021426 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Hillman R Tyler RT Celestino Joseph J Terranova Christopher C Beird Hannah C HC Gumbs Curtis C Little Latasha L Nguyen Tri T Thornton Rebecca R Tippen Samantha S Zhang Jianhua J Lu Karen H KH Gershenson David M DM Rai Kunal K Broaddus Russell R RR Futreal P Andrew PA
Nature communications 20180627 1
Adult-type granulosa cell tumors of the ovary (aGCTs) are rare gynecologic malignancies that exhibit a high frequency of somatic FOXL2 c.C402G (p.Cys134Trp) mutation. Treatment of relapsed aGCT remains a significant clinical challenge. Here we show, using whole-exome and cancer gene panel sequencing of 79 aGCTs from two independent cohorts, that truncating mutation of the histone lysine methyltransferase gene KMT2D (also known as MLL2) is a recurrent somatic event in aGCT. Mono-allelic KMT2D-tru ...[more]