Figure 1
Mutation, Copy Number Variation and Structural Variant (SV) Analysis of Fumarate Hydratase (FH) and in Genes Associated with Uterine Leiomyoma Development. Heatmap details single nucleotide variants (SNVs), insertion/ deletion, copy number variation (CNV) events as well as cases harboring multiple variants in FH or uterine leiomyoma driver genes; Mediator Complex Subunit 12 (MED12), High Mobility Group AT-Hook 1 (HMGA1), Collagen Type IV Alpha 5 Chain (COL4A5) and collagen type IV alpha 6 chain (COL4A6)10. Mutations in FH and MED12 were directly called from ULM whole genome sequencing data aside from patients designated with a “*” that included sequencing of a matched myometrium sample supporting somatic mutation analysis of this patient subset; mutations designated with a triangle in these select cases represent somatic alterations identified in ULMs alone. Somatic mutation analyses of n7 HLRCC patients revealed several harbored germline mutations in FH as well as copy number loss of chromosome 1 regions encoding FH; see Supplemental Table 2 for details.
