Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1

Figure 5

Possible transforming pathway. The point mutation in FAF1 is believed to cause a loss of function (crossed out in red). This may lead to an overactivity of the WNT signaling pathway. Consistently, E2F1 (activated by LEF1) and igf2bp1 (a transcriptional target of the WNT pathway) have been identified to be upregulated in the molecular analysis. In contrast to the negative regulator FAF1, IGF2BP1 is a positive regulator of NF-κB activity. The overactivity of the NF-κB pathway and the reduced efficacy of FAS signaling can be transforming.