Somatic ERCC2 Mutations Are Associated With a Distinct Mutational Signature in Muscle-Invasive Bladder Cancer

Mouw, Kent W.; Braunstein, Lior Z.; Kim, J.; Polak, Paz; Getz, Gad; D’Andrea, Alan D.

doi:10.1016/j.ijrobp.2016.06.141

Cited by 2 publications

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“…The study described 21 different mutational signatures, each characterised by different proportions of the 96 types. Subsequently more than 30 signatures, many with tumour type-specificity, have been reported [6][7][8][9][10][11] .…”

Section: Introductionmentioning

confidence: 99%

The effects of mutational processes and selection on driver mutations across cancer types

Temko

Tomlinson

Severini

et al. 2017

Preprint

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Epidemiological evidence has long associated environmental mutagens with increased cancer risk. However, links between specific mutation-causing processes and the acquisition of individual driver mutations have remained obscure. Here we have used public cancer sequencing data to infer the independent effects of mutation and selection on driver mutation complement. First, we detect associations between a range of mutational processes, including those linked to smoking, ageing, APOBEC and DNA mismatch repair (MMR) and the presence of key driver mutations across cancer types. Second, we quantify differential selection between well-known alternative driver mutations, including differences in selection between distinct mutant residues in the same gene. These results show that while mutational processes play a large role in determining which driver mutations are present in a cancer, the role of selection frequently dominates.gene APC CTNNB1cluster.name Cluster.I Cluster.II Cluster.III CTNNB1 and APC in Colorectum

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Section: Introductionmentioning

confidence: 99%

The effects of mutational processes and selection on driver mutations across cancer types

Temko

Tomlinson

Severini

et al. 2017

Preprint

View full text Add to dashboard Cite

show abstract

The effects of mutational processes and selection on driver mutations across cancer types

et al. 2018

View full text Add to dashboard Cite

Epidemiological evidence has long associated environmental mutagens with increased cancer risk. However, links between specific mutation-causing processes and the acquisition of individual driver mutations have remained obscure. Here we have used public cancer sequencing data from 11,336 cancers of various types to infer the independent effects of mutation and selection on the set of driver mutations in a cancer type. First, we detect associations between a range of mutational processes, including those linked to smoking, ageing, APOBEC and DNA mismatch repair (MMR) and the presence of key driver mutations across cancer types. Second, we quantify differential selection between well-known alternative driver mutations, including differences in selection between distinct mutant residues in the same gene. These results show that while mutational processes have a large role in determining which driver mutations are present in a cancer, the role of selection frequently dominates.

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Somatic ERCC2 Mutations Are Associated With a Distinct Mutational Signature in Muscle-Invasive Bladder Cancer

Cited by 2 publications

References 0 publications

The effects of mutational processes and selection on driver mutations across cancer types

The effects of mutational processes and selection on driver mutations across cancer types

The effects of mutational processes and selection on driver mutations across cancer types

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