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. 2020 Mar 29;12(4):820. doi: 10.3390/cancers12040820

Figure 1.

Figure 1

FOXA1-activating mutations in extramammary Paget’s disease (EMPD) identified by whole-genome sequencing. (A,B) Summary of somatic mutations identified in patients UPN1 (A) and UPN2 (B). Dots indicate nonsynonymous mutations, and the blue arch indicates gene fusion. We identified 43 somatic point mutations and a gene fusion of GAS6 and FOXA1 in UPN1. A total of 190 somatic point mutations were identified in UPN2, 3 of which were possible driver mutations. (C) Chromosomal structure of the GAS6–FOXA1 fusion gene. Genome coordinates, transcripts, and the breakpoint (dashed line) are indicated. (D) Complementary DNA sequence of the GAS6–FOXA1 fusion gene. Exon 2 of GAS6 is joined to exon 2 of FOXA1, resulting in an in-frame fusion. (E) Predicted protein structure of GAS6–FOXA1. (F) Position of the FOXA1 promoter mutation (g.38064406G>A), which is 81 bp upstream of the transcription start site of FOXA1.