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Cited by 32Cancer Genomics and DiagnosticsBRCA gene mutations in cancerBreast Cancer Treatment Studies

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

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Rajendran, Barani Kumar, Deng, Chu-Xia·2017·Oncotarget
DOI 10.18632/oncotarget.20404PMC PMC5731952
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Abstract

// Barani Kumar Rajendran 1 and Chu-Xia Deng 1 1 Cancer Research Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China Correspondence to: Chu-Xia Deng, email: cxdeng@umac.mo Keywords: breast cancer, OBSCN gene, OBSCURIN, cell adhesion, EMT Received: May 25, 2017 Accepted: July 26, 2017 Published: August 23, 2017 ABSTRACT 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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  • In human tumors, altered expression of endocytic regulatory factors such as clathrin-hc, clathrin-like, Caveolin-1, Nexin-1, and Numb along with driver mutations are crucial for endocytosis.

    “In addition, in human tumors, altered expression of various endocytic regulatory factors such as clathrin-hc, clathrin- like, Caveolin-1, Nexin-1, and Numb along with driver mutations are crucial for endocytosis [102,103].”

    From Insights of Endocytosis Signaling in Health and Disease (2023) · cites this paper as [103]

    The Introduction passages on OBSCN mutations and tumorigenesis discuss cell adhesion, cytoskeletal regulation, and signaling, but not the claimed endocytic factors or their role in endocytosis. Searches for the named factors and for endocytosis with driver mutations found no passage addressing that claim; page numbers were unavailable in our copy. (LLM, conf=0.72)

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Metadata

Authors
Rajendran, B. K., & Deng, C.-X.
Affiliations
University of Macau (MO)
ORCID
Venue
Oncotarget
Publisher
Impact Journals, LLC
Published
2017-08-23
Volume
8
Issue
60
Pages
102263-102276
ISSN
1949-2553 (ISSN-L)
DOI
10.18632/oncotarget.20404
PMC
PMC5731952
OpenAlex
W2749019391
Cited by
32
References
3
Citations by year
2026: 2 · 2025: 2 · 2024: 6 · 2023: 6 · 2022: 3 · 2021: 5 · 2020: 4 · 2019: 2 · 2018: 2
FWCI
0.73
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Oncotarget (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • Universidade de Macau (MYRG2016-00139, MYRG2016-00132-FHS)
  • Fundo para o Desenvolvimento das Ciências e da Tecnologia (094/2015/A3, 065/2015/A2)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Breast Cancer Treatment Studies
Keywords
obscurin, breast cancer, breast tumorigenesis, copy number alterations, DNA methylation, functional mutations, G protein-coupled receptor signaling, Ras signaling, Wnt signaling, epithelial-mesenchymal transition, cell adhesion, metastasis, prognostic signature

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