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Updated: Apr 27, 2026
Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
Mechanisms underlying mutational signatures in human cancers
Thomas Helleday1, Saeed Eshtad1, Serena Nik-Zainal2
1Science for Life Laboratory, Division of Translational Medicine and Chemical Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 21 Stockholm, Sweden.
Abstract:
The collective somatic mutations observed in a cancer are the outcome of multiple mutagenic processes that have been operative over the lifetime of a patient. Each process leaves a characteristic imprint--a mutational signature--on the cancer genome, which is defined by the type of DNA damage and DNA repair processes that result in base substitutions, insertions and deletions or structural variations. With the advent of whole-genome sequencing, researchers are identifying an increasing array of these signatures. Mutational signatures can be used as a physiological readout of the biological history of a cancer and also have potential use for discerning ongoing mutational processes from historical ones, thus possibly revealing new targets for anticancer therapies.
Insights
Cancer genomes accumulate mutations from various processes, each leaving a unique signature. Analyzing these mutational signatures offers insights into cancer
Area of Science:
- Genomics
- Cancer Biology
- Molecular Oncology
Background:
- Cancer arises from accumulated somatic mutations over a patient's lifetime.
- Multiple mutagenic processes contribute to cancer development.
- Each process leaves a distinct mutational signature on the cancer genome.
Purpose of the Study:
- To explore the role of mutational signatures in understanding cancer's biological history.
- To investigate the potential of mutational signatures for identifying therapeutic targets.
Main Methods:
- Utilizing whole-genome sequencing to identify diverse mutational signatures.
- Analyzing the types of DNA damage and repair processes that cause genomic variations.
Main Results:
- Researchers are increasingly identifying a wide range of mutational signatures.
- Mutational signatures serve as a physiological readout of cancer's past.
- These signatures can differentiate between ongoing and historical mutational processes.
Conclusions:
- Mutational signatures provide a historical record of cancer development.
- Identifying and analyzing mutational signatures may reveal new therapeutic strategies.
- Understanding mutational signatures is crucial for advancing cancer treatment.
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