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Identifying pathways affected by cancer mutations.

Prathima Iengar1

  • 1Molecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, India.

Genomics
|December 21, 2017
PubMed
Summary
This summary is machine-generated.

Cancer mutations frequently impact organismal systems pathways, including the nervous system. This study highlights the underappreciated role of these pathways in cancer, offering new insights into cancer processes through novel visualization methods.

Keywords:
Cancer genes participating in multiple pathwaysDoughnut plots representing mutated pathways and genes in cancerGene-wise, chromosome-wise and cancer-wise distribution of cancer mutationsOrganism-level pathways mutated in cancerRecurrently mutated genes in cancerSample-wise matrix of gene mutations in cancerWeighting mutated genes and pathways in cancer

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Area of Science:

  • Genomics and Bioinformatics
  • Cancer Biology
  • Systems Biology

Background:

  • Cancer is driven by genetic mutations affecting cellular processes.
  • Understanding which biological pathways are impacted by these mutations is crucial for deciphering cancer mechanisms.
  • Existing research often focuses on well-known pathways, potentially overlooking others.

Purpose of the Study:

  • To identify and visualize pathways affected by cancer mutations across various cancer types.
  • To investigate the relative impact of mutations on different pathway groups, including organismal systems.
  • To uncover insights into fundamental cancer processes by analyzing commonly affected pathways.

Main Methods:

  • Utilized mutation data from the COSMIC Whole Genomes database for 15 cancers.
  • Integrated 297 human pathways from the KEGG pathway database, grouped by function.
  • Defined recurrently mutated genes and pathways affected by these mutations.
  • Developed novel doughnut plots for visualizing pathway and gene targeting in each cancer.

Main Results:

  • The 'organismal systems' pathway group was found to be the most targeted by cancer mutations.
  • This group showed greater targeting than established pathways like signal transduction, cell-cycle, apoptosis, and DNA repair.
  • Analysis of pathways affected in ≥7 cancers provided insights into common cancer processes.

Conclusions:

  • Organismal systems pathways play a significant, yet under-recognized, role in cancer development.
  • Novel visualization techniques effectively illustrate the landscape of pathway involvement in cancer.
  • Further research into organismal systems pathways is warranted to better understand and target cancer.