Journal article

Somatic mutation footprinting reveals a unique tetranucleotide signature associated with intron-exon boundaries in lung cancer

Samuel Wormald, Anita Lerch, Dmitri Mouradov, Liam O'Connor

CARCINOGENESIS | OXFORD UNIV PRESS | Published : 2018

Abstract

Cigarette smoke comprises a large number of carcinogenic substances that can increase DNA mutation load in epithelial cells of the mouth, throat and lungs. While a strong C:A substitution preference is abundant in tobacco-related cancer genomes, detection of complex or less abundant somatic mutation signatures may be confounded by the heterogeneity of carcinogens present in smoke. Trinucleotide signatures are defined for a variety of somatic mutation processes, yet the extent to which this configuration optimally defines and discriminates between mutational processes is not clear. Here, we describe a method that determines whether trinucleotide patterns do a good job at encapsulating a mutat..

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Grants

Awarded by National Health and Medical Research Council of Australia


Funding Acknowledgements

This work was supported by a donation from the George Janko & Karen Inge Foundation. S.W. was supported by a fellowship from the National Health and Medical Research Council of Australia (ID 519795).