Written by Austin Herbert (upcoming graduate student)
Week 11 (4/2/21) – Mutation of splicing factor genes has shown to be a key factor promoting cancer cell proliferation in colorectal carcinoma. Determining the effects of splicing factor mutations across different cancer types is essential for deconvoluting any shared or unique mis-splicing patterns in cancer. We discussed work by Seiler et. al surveying the mutational profiles and the subsequent effects of variation on splicing factor genes in 33 different types of cancers. 119 splicing factor genes with putative driver mutations were identified in one or more cancer types. Splicing genes were most frequently mutated as mutually exclusive events. Of the 33 cancer types, bladder carcinoma and uveal melanoma were found carrying more driver splicing mutations than expected by chance in like SF3B1, SRSF2, and RBM10. Finally, using and in-silico gene set enrichment analysis, Seiler et al were able to predict that splicing factor mutations may be associated with the deregulation of cell-autonomous pathways and immune infiltration. By identifying splicing factor mutation profiles across so many cancer types, Seiler et al has set the groundwork for experiments characterizing the functional consequences of such mutations and their overall contributions to cancer biology.
Upcoming (4/9/21) – We are deciding between Pandora-Seq and DRACO!