Inferring Dysregulated Pathways of Driving Cancer Subtypes Through Multi-omics Integration

  • Kai Shi
  • Lin GaoEmail author
  • Bingbo Wang
Conference paper
Part of the Lecture Notes in Computer Science book series (LNCS, volume 10847)


The rapid accumulation of multi-omics cancer data has created the opportunity for biological discovery and biomedical applications. In this study, we propose an approach that integrates multi-omics data to identify dysregulated pathways driving cancer subtypes, which simultaneously considers DNA methylation, DNA copy number, somatic mutation and gene expression profiles. After applying it to Breast Invasive Carcinoma (BRCA) in TCGA, we identify distinct top 30 dysregulated pathways for each breast cancer subtypes. The result suggests that dysregulated pathways of different subtypes display common and specific patterns. Furthermore, 44 differentially expressed genes with corresponding genetic and epigenetic dysregulation are retrieved from the subtype-specific pathways. Literature validation and functional enrichment analysis indicate that these genes are function associated with BRCA. Our method provides a new insight for identifying the driver of cancer subtypes through multi-omics data integration.


Dysregulated pathways BRCA Data integration Maximum relevance minimum redundancy Disease gene 



This work was supported by the National NSFC (Grant No. 61532014 & No. 61432010 & No. 61672407 & No. 61772395), the Fundamental Research Funds for the Central Universities (No. JB150303) and the Fundamental Research Funds for young teacher (2017KY0264).

Supplementary material

470433_1_En_9_MOESM1_ESM.pdf (47 kb)
Supplementary material 1 (pdf 46 KB)


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.School of Computer Science and TechnologyXidian UniversityXianChina
  2. 2.College of ScienceGuilin University of TechnologyGuilinChina

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