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. Author manuscript; available in PMC: 2019 May 1.
Published in final edited form as: Cancer. 2018 Feb 20;124(9):1973–1981. doi: 10.1002/cncr.31286

Figure 5. RAS, NOTCH, Hh and mTOR pathway gene mutations in PF- D3 RMS.

Figure 5

Mutations were considered likely damaging, if one of 3 different algorithms predicted pathogenicity in silico (Table S5). (A) Such high-impact mutations with evidence for functional relevance were detected in RAS genes in 10 tumors, in Hh genes in 4 tumors, in mTOR genes in 6 tumors and in NOTCH genes in 4 tumors. (B) High-impact mutations with evidence for functional relevance in Hh and mTOR gene mutations in PF- D3 RMS were mutually exclusive. One of 6 mTOR-mutated tumors and 3 of 4 Hh-mutated tumors exhibited concurrent RAS pathway mutations.