IMR Press / FBL / Volume 25 / Issue 10 / DOI: 10.2741/4879

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Review
Beyond the coding genome: non-coding mutations and cancer
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1 Department of Cellular Organization and Signaling, National Centre for Biological Sciences, Tata Institute for Fundamental Research, Bangalore 560065, India
Send correspondence to: Dimple Notani, 1National Centre for Biological Sciences, Bangalore, India, Tel: 080 2366 6664, E-mail: dnotani@ncbs.res.in
Front. Biosci. (Landmark Ed) 2020, 25(10), 1828–1838; https://doi.org/10.2741/4879
Published: 1 June 2020
(This article belongs to the Special Issue Elucidation of exosomes role in metastasis)
Abstract

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.

Keywords
Genome
Mutation
Enhancer
Cancer
SNP
Oncogene
GWAS
eRNA
Insulator
Boundary
TAD
CTCF
Chromatin architecture
Enhanceropathy and Review.
Figures
Figure 1
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