A Comprehensive Genomic Meta-analysis Identifies Confirmatory Role of Gene in Breast Tumorigenesis

The giant multifunctional protein "OBSCURIN" is encoded by 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 gene mutations are more frequently observed in various muscular diseases, and cancers. Nevertheless, the direct role of in tumorigenesis remains elusive. Interestingly, in clinical breast cancer samples a significant number of function changing mutations have been identified in gene. In this study, we identified a significant role of 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 gene plays a significant role in GPCR, RAS, p75 or Wnt signaling pathways. Similarly, gene interacts with many cancer-associated genes involved in breast tumorigenesis. The gene probably regulates breast cancer progression and metastasis and the prognostic molecular signatures such as copy number alterations and gene expression of may serve as a tool to identify breast tumorigenesis and metastasis.