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BMC Cancer
Published in: BMC Cancer 1/2019

Open Access 01-12-2019 | Review

Portrait of a cancer: mutational signature analyses for cancer diagnostics

Authors: Arne Van Hoeck, Niels H. Tjoonk, Ruben van Boxtel, Edwin Cuppen

Published in: BMC Cancer | Issue 1/2019

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Abstract

Background

In the past decade, systematic and comprehensive analyses of cancer genomes have identified cancer driver genes and revealed unprecedented insight into the molecular mechanisms underlying the initiation and progression of cancer. These studies illustrate that although every cancer has a unique genetic make-up, there are only a limited number of mechanisms that shape the mutational landscapes of cancer genomes, as reflected by characteristic computationally-derived mutational signatures. Importantly, the molecular mechanisms underlying specific signatures can now be dissected and coupled to treatment strategies. Systematic characterization of mutational signatures in a cancer patient’s genome may thus be a promising new tool for molecular tumor diagnosis and classification.

Results

In this review, we describe the status of mutational signature analysis in cancer genomes and discuss the opportunities and relevance, as well as future challenges, for further implementation of mutational signatures in clinical tumor diagnostics and therapy guidance.

Conclusions

Scientific studies have illustrated the potential of mutational signature analysis in cancer research. As such, we believe that the implementation of mutational signature analysis within the diagnostic workflow will improve cancer diagnosis in the future.
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Metadata
Title
Portrait of a cancer: mutational signature analyses for cancer diagnostics
Authors
Arne Van Hoeck
Niels H. Tjoonk
Ruben van Boxtel
Edwin Cuppen
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2019
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-019-5677-2

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BMC Cancer 1/2019 Go to the issue

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A systematic analysis of immune genes and overall survival in cancer patients
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