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Mutational signatures and mutable motifs in cancer genomes

Rogozin, Igor B., Pavlov, Youri I., Goncearenco, Alexander, De, Subhajyoti, Lada, Artem G., Poliakov, Eugenia, Panchenko, Anna R. and Cooper, David N. 2018. Mutational signatures and mutable motifs in cancer genomes. Briefings in Bioinformatics 19 (6) , pp. 1085-1101. 10.1093/bib/bbx049

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Abstract

Cancer is a genetic disorder, meaning that a plethora of different mutations, whether somatic or germ line, underlie the etiology of the ‘Emperor of Maladies’. Point mutations, chromosomal rearrangements and copy number changes, whether they have occurred spontaneously in predisposed individuals or have been induced by intrinsic or extrinsic (environmental) mutagens, lead to the activation of oncogenes and inactivation of tumor suppressor genes, thereby promoting malignancy. This scenario has now been recognized and experimentally confirmed in a wide range of different contexts. Over the past decade, a surge in available sequencing technologies has allowed the sequencing of whole genomes from liquid malignancies and solid tumors belonging to different types and stages of cancer, giving birth to the new field of cancer genomics. One of the most striking discoveries has been that cancer genomes are highly enriched with mutations of specific kinds. It has been suggested that these mutations can be classified into ‘families’ based on their mutational signatures. A mutational signature may be regarded as a type of base substitution (e.g. C:G to T:A) within a particular context of neighboring nucleotide sequence (the bases upstream and/or downstream of the mutation). These mutational signatures, supplemented by mutable motifs (a wider mutational context), promise to help us to understand the nature of the mutational processes that operate during tumor evolution because they represent the footprints of interactions between DNA, mutagens and the enzymes of the repair/replication/modification pathways

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Oxford University Press (OUP)
ISSN: 1467-5463
Date of First Compliant Deposit: 17 December 2018
Date of Acceptance: 27 November 2018
Last Modified: 24 Jul 2019 10:36
URI: http://orca.cf.ac.uk/id/eprint/117709

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