Article
Pan-cancer analysis identifies mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation.
Proceedings of the National Academy of Sciences of the United States of America - 12 May 2020
Liu Zhaoqi, Zhang Jian, Sun Yiwei, Perea-Chamblee Tomin E, Manley James L, Rabadan Raul
Abstract excerpt
The gene encoding the core spliceosomal protein SF3B1 is the most frequently mutated gene encoding a splicing factor in a variety of hematologic malignancies and solid tumors. SF3B1 mutations induce use of cryptic 3' splice sites (3'ss), and these splicing errors contribute to tumorigenesis. However, it is unclear how widespread this type of cryptic 3'ss usage is in cancers and what is the full spectrum of...
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