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BMC Cancer. 2019 May 15;19(1):457. doi: 10.1186/s12885-019-5677-2.

Portrait of a cancer: mutational signature analyses for cancer diagnostics.

Author information

1
Center for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, Heidelberglaan 100, 3584CX, Utrecht, The Netherlands. A.VanHoeck@umcutrecht.nl.
2
Center for Molecular Medicine and Oncode Institute, University Medical Centre Utrecht, Heidelberglaan 100, 3584CX, Utrecht, The Netherlands.
3
Princess Máxima Center for Pediatric Oncology and Oncode Institute, Heidelberglaan 25, 3584CS, Utrecht, The Netherlands.
4
Hartwig Medical Foundation, Science Park 408, 1098XH, Amsterdam, The Netherlands.

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.

KEYWORDS:

Mutational signature, Cancer diagnosis, Cancer biomarkers, Cancer genomics, Molecular medicine, Whole genome sequencing

PMID:
31092228
PMCID:
PMC6521503
DOI:
10.1186/s12885-019-5677-2
[Indexed for MEDLINE]
Free PMC Article

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