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

Publication ,  Journal Article
Seiler, M; Peng, S; Agrawal, AA; Palacino, J; Teng, T; Zhu, P; Smith, PG; Cancer Genome Atlas Research Network, ; Buonamici, S; Yu, L
Published in: Cell Rep
April 3, 2018

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.

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Published In

Cell Rep

DOI

EISSN

2211-1247

Publication Date

April 3, 2018

Volume

23

Issue

1

Start / End Page

282 / 296.e4

Location

United States

Related Subject Headings

  • RNA Splicing Factors
  • RNA Splicing
  • Oncogenes
  • Neoplasms
  • Mutation Rate
  • Loss of Function Mutation
  • Humans
  • Genes, Tumor Suppressor
  • Cell Line, Tumor
  • 31 Biological sciences
 

Citation

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Seiler, M., Peng, S., Agrawal, A. A., Palacino, J., Teng, T., Zhu, P., … Yu, L. (2018). Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types. Cell Rep, 23(1), 282-296.e4. https://doi.org/10.1016/j.celrep.2018.01.088
Seiler, Michael, Shouyong Peng, Anant A. Agrawal, James Palacino, Teng Teng, Ping Zhu, Peter G. Smith, Peter G. Cancer Genome Atlas Research Network, Silvia Buonamici, and Lihua Yu. “Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types.Cell Rep 23, no. 1 (April 3, 2018): 282-296.e4. https://doi.org/10.1016/j.celrep.2018.01.088.
Seiler M, Peng S, Agrawal AA, Palacino J, Teng T, Zhu P, et al. Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types. Cell Rep. 2018 Apr 3;23(1):282-296.e4.
Seiler, Michael, et al. “Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types.Cell Rep, vol. 23, no. 1, Apr. 2018, pp. 282-296.e4. Pubmed, doi:10.1016/j.celrep.2018.01.088.
Seiler M, Peng S, Agrawal AA, Palacino J, Teng T, Zhu P, Smith PG, Cancer Genome Atlas Research Network, Buonamici S, Yu L. Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types. Cell Rep. 2018 Apr 3;23(1):282-296.e4.
Journal cover image

Published In

Cell Rep

DOI

EISSN

2211-1247

Publication Date

April 3, 2018

Volume

23

Issue

1

Start / End Page

282 / 296.e4

Location

United States

Related Subject Headings

  • RNA Splicing Factors
  • RNA Splicing
  • Oncogenes
  • Neoplasms
  • Mutation Rate
  • Loss of Function Mutation
  • Humans
  • Genes, Tumor Suppressor
  • Cell Line, Tumor
  • 31 Biological sciences