Journal article
Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types
Cell reports (Cambridge), Vol.23(1), pp.282-296.e4
04/03/2018
DOI: 10.1016/j.celrep.2018.01.088
PMCID: PMC5933844
PMID: 29617667
Abstract
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.
Details
- Title: Subtitle
- Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types
- Creators
- Michael Seiler - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA.Shouyong Peng - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA.Anant A Agrawal - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA.James Palacino - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA.Teng Teng - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA.Ping Zhu - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA.Peter G Smith - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USASilvia Buonamici - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA. Electronic address:Lihua Yu - H3 Biomedicine, Inc., 300 Technology Square, Cambridge, MA 02139, USA. Electronic address:
- Contributors
- Cancer Genome Atlas Research NetworkDeqin Ma - University of Iowa, PathologyMohammed M Milhem - University of Iowa, Internal MedicineAaron D Bossler - University of Iowa, Pathology
- Resource Type
- Journal article
- Publication Details
- Cell reports (Cambridge), Vol.23(1), pp.282-296.e4
- DOI
- 10.1016/j.celrep.2018.01.088
- PMID
- 29617667
- PMCID
- PMC5933844
- ISSN
- 2211-1247
- eISSN
- 2211-1247
- Grant note
- U24 CA143843 / NCI NIH HHS R50 CA221675 / NCI NIH HHS U24 CA143867 / NCI NIH HHS U24 CA143858 / NCI NIH HHS U24 CA143882 / NCI NIH HHS U24 CA210957 / NCI NIH HHS U54 HG003067 / NHGRI NIH HHS U24 CA143845 / NCI NIH HHS U54 HG003079 / NHGRI NIH HHS P30 CA016672 / NCI NIH HHS U24 CA143835 / NCI NIH HHS U54 HG003273 / NHGRI NIH HHS U24 CA143840 / NCI NIH HHS U24 CA144025 / NCI NIH HHS U24 CA143866 / NCI NIH HHS U24 CA143883 / NCI NIH HHS U24 CA210990 / NCI NIH HHS U24 CA143799 / NCI NIH HHS U24 CA210949 / NCI NIH HHS U24 CA143848 / NCI NIH HHS R01 CA163722 / NCI NIH HHS
- Language
- English
- Date published
- 04/03/2018
- Academic Unit
- Hematology, Oncology, and Blood & Marrow Transplantation; Pathology; Internal Medicine
- Record Identifier
- 9984183989102771
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