Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.

The interpretation of noncoding alterations in cancer genomes presents an unresolved problem in cancer studies. While the impact of somatic variations in protein-coding regions is widely accepted, noncoding aberrations are mostly considered as passenger events. However, with the advance of genome-wi...

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Main Author: Holger Heyn
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4777413?pdf=render
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author Holger Heyn
author_facet Holger Heyn
author_sort Holger Heyn
collection DOAJ
description The interpretation of noncoding alterations in cancer genomes presents an unresolved problem in cancer studies. While the impact of somatic variations in protein-coding regions is widely accepted, noncoding aberrations are mostly considered as passenger events. However, with the advance of genome-wide profiling strategies, alterations outside the coding context entered the focus, and multiple examples highlight the role of gene deregulation as cancer-driving events. This review describes the implication of noncoding alterations in oncogenesis and provides a theoretical framework for the identification of causal somatic variants using quantitative trait loci (QTL) analysis. Assuming that functional noncoding alterations affect quantifiable regulatory processes, somatic QTL studies constitute a valuable strategy to pinpoint cancer gene deregulation. Eventually, the comprehensive identification and interpretation of coding and noncoding alterations will guide our future understanding of cancer biology.
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spelling doaj.art-d82c039c81bd4b3082d4bbf16cc4d4cb2022-12-22T03:18:07ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042016-03-01123e100582610.1371/journal.pgen.1005826Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.Holger HeynThe interpretation of noncoding alterations in cancer genomes presents an unresolved problem in cancer studies. While the impact of somatic variations in protein-coding regions is widely accepted, noncoding aberrations are mostly considered as passenger events. However, with the advance of genome-wide profiling strategies, alterations outside the coding context entered the focus, and multiple examples highlight the role of gene deregulation as cancer-driving events. This review describes the implication of noncoding alterations in oncogenesis and provides a theoretical framework for the identification of causal somatic variants using quantitative trait loci (QTL) analysis. Assuming that functional noncoding alterations affect quantifiable regulatory processes, somatic QTL studies constitute a valuable strategy to pinpoint cancer gene deregulation. Eventually, the comprehensive identification and interpretation of coding and noncoding alterations will guide our future understanding of cancer biology.http://europepmc.org/articles/PMC4777413?pdf=render
spellingShingle Holger Heyn
Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.
PLoS Genetics
title Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.
title_full Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.
title_fullStr Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.
title_full_unstemmed Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.
title_short Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.
title_sort quantitative trait loci identify functional noncoding variation in cancer
url http://europepmc.org/articles/PMC4777413?pdf=render
work_keys_str_mv AT holgerheyn quantitativetraitlociidentifyfunctionalnoncodingvariationincancer