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

Barani Kumar Rajendran1, Chu-Xia Deng1

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

Oncotarget
|December 20, 2017
PubMed

Insights

The OBSCN gene, encoding the giant OBSCURIN protein, plays a significant role in breast cancer progression and metastasis. Its mutations and expression patterns may serve as prognostic markers for tumorigenesis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • OBSCURIN, a giant multifunctional protein encoded by the OBSCN gene, is crucial for myofibril organization in skeletal muscles.
  • OBSCN gene mutations are linked to muscular diseases and cancers, but its role in tumorigenesis is unclear.
  • Function-altering OBSCN mutations are prevalent in clinical breast cancer samples.

Purpose of the Study:

  • To investigate the role of the OBSCN gene in breast tumorigenesis.
  • To analyze OBSCN's involvement in breast cancer progression and metastasis using multi-omics data.
  • To identify potential prognostic molecular signatures related to OBSCN in breast cancer.

Main Methods:

  • Integrative analysis of copy number alterations, functional mutations, gene methylation, and expression data from BRCA and TCGA datasets.
  • Utilized cBioPortal and TCGA firebrowse portal for data retrieval and analysis.
  • Performed genetic network analysis to identify interacting pathways and genes.

Main Results:

  • Identified a significant role for the OBSCN gene in breast tumorigenesis.
  • OBSCN gene alterations and expression are associated with breast cancer progression and metastasis.
  • Genetic network analysis revealed OBSCN's involvement in GPCR, RAS, p75, and Wnt signaling pathways.
  • OBSCN interacts with known breast cancer-associated genes.

Conclusions:

  • The OBSCN gene is implicated in breast cancer progression and metastasis.
  • Molecular signatures of OBSCN, including copy number alterations and gene expression, may aid in identifying breast tumorigenesis.
  • OBSCN warrants further investigation as a potential therapeutic target or biomarker in breast cancer.

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