Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types.

Seiler, Michael; Peng, Shouyong; Agrawal, Anant A; Palacino, James; Teng, Teng; Zhu, Ping; Smith, Peter G; Buonamici, Silvia; Yu, Lihua (2018). Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types. Cell reports, 23(1), 282-296.e4. Cell Press 10.1016/j.celrep.2018.01.088

	Text nihms958968.pdf - Accepted Version Restricted to registered users only Available under License Publisher holds Copyright. Download (1MB) | Request a copy
Preview	Text 1-s2.0-S2211124718301529-main.pdf - Published Version Available under License Creative Commons: Attribution-Noncommercial-No Derivative Works (CC-BY-NC-ND). Download (10MB) | Preview

Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer. We analyzed whole-exome sequencing data across 33 tumor types in The Cancer Genome Atlas (TCGA), and we identified 119 splicing factor genes with significant non-silent mutation patterns, including mutation over-representation, recurrent loss of function (tumor suppressor-like), or hotspot mutation profile (oncogene-like). Furthermore, RNA sequencing analysis revealed altered splicing events associated with selected splicing factor mutations. In addition, we were able to identify common gene pathway profiles associated with the presence of these mutations. Our analysis suggests that somatic alteration of genes involved in the RNA-splicing process is common in cancer and may represent an underappreciated hallmark of tumorigenesis.

Interest & Impact

Downloads

92 since deposited on 09 Oct 2019
28 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item