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cc by (c) Heyn, Holger, 2016
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/126874

Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer

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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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HEYN, Holger. Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer. PLoS Genetics. 2016. Vol. 12, num. 3, pags. e1005826. [consulted: 13 of August of 2026]. Available at: https://hdl.handle.net/2445/126874

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