Mutational signatures: emerging concepts, caveats and clinical applications
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Link
https://www.nature.com/articles/s41568-021-00377-7.pdf
Reference176 articles.
1. Nik-Zainal, S. et al. Mutational processes molding the genomes of 21 breast cancers. Cell 149, 979–993 (2012). This study presents catalogues of somatic mutations from 21 breast cancers, the respective mutational signatures of which were extracted by mathematical methods.
2. Alexandrov, L. B. et al. Signatures of mutational processes in human cancer. Nature 500, 415–421 (2013). This study reports 21 distinct mutational signatures extracted from several cancer types, which form the basis of COSMIC mutational signatures v2.
3. Alexandrov, L. B. et al. The repertoire of mutational signatures in human cancer. Nature 578, 94–101 (2020). This study reports the largest number of mutational signatures to date, which form the basis of COSMIC mutational signatures v3, and introduces DBSs and IDs.
4. Degasperi, A. et al. A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies. Nat. Cancer 1, 249–263 (2020). This study introduces a practical framework and Signal, an online tool, to analyse mutational signatures. It also reports evidence of tissue-specific variability in mutational signatures, which may impact tumour classification and clinical application.
5. Li, Y. et al. Patterns of somatic structural variation in human cancer genomes. Nature 578, 112–121 (2020).
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