Fig. 2

Recurrently altered pathways and genes in MFS. Frequently altered pathways in MFS: p53 signaling and cell cycle G1/S checkpoint pathways (a) and RTK-RAS-PI3K pathway (b). Genes with alterations are colored in orange. The types of alterations (amplification, homozygous deletion, or mutation) and their frequencies are indicated. Distributions of mutations of ATRX (c) and TET2 (d) detected in 116 MFSs were shown. The location of somatic mutations in ATRX or TET2 observed in this study is shown on the protein schematics. Types of mutations are featured by color as follows: frameshift indel, blue; missense, red; nonsense, light blue; and splice site, orange. The majority of mutations in ATRX were loss-of-function alterations that presumably lack the ATPase domain (c). All four nonsense mutations in TET2 are predicted to encode truncated proteins lacking a functional DSBH domain (d). Cys cysteine-rich domain, DSBH double-stranded beta-helix domain