A comprehensive genomic meta-analysis identifies confirmatory role of OBSCN gene in breast tumorigenesis

Barani Kumar Rajendran and Chu-Xia Deng _

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Oncotarget. 2017; 8:102263-102276. https://doi.org/10.18632/oncotarget.20404

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Barani Kumar Rajendran1 and Chu-Xia Deng1

1Cancer Research Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China

Correspondence to:

Chu-Xia Deng, email: [email protected]

Keywords: breast cancer, OBSCN gene, OBSCURIN, cell adhesion, EMT

Received: May 25, 2017     Accepted: July 26, 2017     Published: August 23, 2017


The giant multifunctional protein “OBSCURIN” is encoded by OBSCN gene and is mostly expressed in cardiac and other skeletal muscles responsible for myofibrils organization. Loss of OBSCURIN affects the entire downstream pathway proteins vital for various cellular functions including cell integration and cell adhesion. The OBSCN gene mutations are more frequently observed in various muscular diseases, and cancers. Nevertheless, the direct role of OBSCN in tumorigenesis remains elusive. Interestingly, in clinical breast cancer samples a significant number of function changing mutations have been identified in OBSCN gene. In this study, we identified a significant role of OBSCN by conducting an integrative analysis of copy number alterations, functional mutations, gene methylation and expression data from various BRCA cancer projects data available on cBioPortal and TCGA firebrowse portal. Finally, we carried out genetic network analysis, which revealed that OBSCN gene plays a significant role in GPCR, RAS, p75 or Wnt signaling pathways. Similarly, OBSCN gene interacts with many cancer-associated genes involved in breast tumorigenesis. The OBSCN gene probably regulates breast cancer progression and metastasis and the prognostic molecular signatures such as copy number alterations and gene expression of OBSCN may serve as a tool to identify breast tumorigenesis and metastasis.

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