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Mutational signatures: emerging concepts, caveats and clinical applications.

Nature reviews. Cancer - 1 Oct 2021

Koh Gene, Degasperi Andrea, Zou Xueqing, Momen Sophie, Nik-Zainal Serena

Abstract excerpt

Whole-genome sequencing has brought the cancer genomics community into new territory. Thanks to the sheer power provided by the thousands of mutations present in each patient's cancer, we have been able to discern generic patterns of mutations, termed 'mutational signatures', that arise during tumorigenesis. These mutational signatures provide new insights into the causes of individual cancers, revealing both...

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PMID: 34316057
DOI: 10.1038/s41568-021-00377-7

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