Beyond the coding genome: non-coding mutations and cancer

Front Biosci (Landmark Ed). 2020 Jun 1;25(10):1828-1838. doi: 10.2741/4879.


Latest advancements in genomics involving individuals from different races and geographical locations has led to the identification of thousands of common as well as rare genetic variants and copy number variations (CNVs). These studies have surprisingly revealed that the majority of genetic variation is not present within the coding region but rather in the non-coding region of the genome, which is also termed as "Medical Genome". This short review describes how mutations/variations within; regulatory sequences, architectural proteins and transcriptional regulators give rise to the aberrant gene expression profiles that drives cellular transformations and malignancies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA Copy Number Variations
  • Enhancer Elements, Genetic / genetics*
  • Genome, Human / genetics*
  • Genomics / methods
  • Humans
  • Insulator Elements / genetics*
  • Mutation*
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics*