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Pan-cancer analysis of somatic mutations in miRNA genes

Martyna O Urbanek-Trzeciak1, Paulina Galka-Marciniak1, Paulina M Nawrocka1

  • 1Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

Ebiomedicine
|October 10, 2020
PubMed
Abstract

Insights

This study analyzed over 10,000 cancer samples, identifying numerous somatic mutations in microRNA (miRNA) genes. Some miRNA genes are frequently mutated across cancers, impacting expression, staging, and survival, offering new insights into cancer drivers.

Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • MicroRNAs (miRNAs) play critical roles in oncogenesis as either oncomiRs or tumor suppressors.
  • While somatic mutations in protein-coding genes are well-studied, functional somatic mutations in miRNA genes remain under-investigated.
  • Understanding miRNA gene mutations is crucial for comprehending cancer development.

Purpose of the Study:

  • To conduct the first comprehensive Pan-Cancer analysis of somatic mutations in miRNA genes.
  • To identify and characterize frequently mutated miRNA genes across various cancer types.
  • To explore the functional consequences of these mutations on miRNA expression, cancer staging, and patient survival.

Main Methods:

  • Analysis of whole-exome sequencing data from over 10,000 cancer/normal sample pairs in The Cancer Genome Atlas (TCGA) repository.
  • Identification and characterization of somatic mutations within miRNA genes.
  • Statistical analysis to assess mutation nonrandomness, pathway associations (KEGG), and correlations with clinical data.

Main Results:

  • Over 10,000 somatic mutations were identified in miRNA genes across Pan-Cancer and specific cancer types.
  • Certain miRNA genes were found to be significantly overmutated, with nonrandom occurrence linked to cancer-related KEGG pathways.
  • Mutations in overmutated miRNA genes showed correlations with miRNA expression levels, cancer stage, and patient survival.

Conclusions:

  • This study provides the first extensive Pan-Cancer characterization of somatic mutations in miRNA genes.
  • The findings enhance understanding of miRNA gene mutation consequences and aid in identifying functional cancer-driving miRNA mutations.
  • Results lay the groundwork for developing computational tools to identify novel cancer-driver miRNA genes.
Keywords:
Non-codingPan-CancerSomatic mutationsTCGAmiRNA

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