Somatic mutation in cancer and normal cells
Abstract
Spontaneously occurring mutations accumulate in somatic cells throughout a person’s lifetime. The majority of these mutations do not have a noticeable effect, but some can alter key cellular functions. Early somatic mutations can cause developmental disorders, whereas the progressive accumulation of mutations throughout life can lead to cancer and contribute to aging. Genome sequencing has revolutionized our understanding of somatic mutation in cancer, providing a detailed view of the mutational processes and genes that drive cancer. Yet, fundamental gaps remain in our knowledge of how normal cells evolve into cancer cells. We briefly summarize a number of the lessons learned over 5 years of cancer genome sequencing and discuss their implications for our understanding of cancer progression and aging.
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Clonal expansion driven by somatic variants in genes regulating cell proliferation and fitness is considered the major cause of cancer, but has also been reported in various non-cancerous cells, often in the absence of visible pathology.
“Clonal expansion, driven by somatic variants in genes regulating cell proliferation and fitness, is considered the major cause of cancer, but has also been recently reported in various non-cancerous cells, often in the absence of visible pathology19.”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [19]
Somatic mutations are common in most individuals, and mutation burden increases with age and chronic tissue damage.
“Somatic mutations are common in most individuals, and there is accumulating evidence that mutation burden increases with age and chronic tissue damage1-4.”
From Positive selection of somatically mutated clones identifies adaptive pathways in metabolic liver disease (2023) · cites this paper as [1]
Aging is associated with a steady increase in the number of somatic mutations in virtually all tissues.
“Aging is associated with a steady increase in the number of somatic mutations in virtually all tissues 1–5.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [4]
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Self-citationAnalyzing somatic mutations by single-cell whole-genome sequencing
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- Authors
- Martincorena, I., & Campbell, P. J.
- Affiliations
- Wellcome Sanger Institute (GB)
- University of Cambridge (GB)
- Corresponding author
- Campbell, Peter J.
- Venue
- Science
- Published
- 2015-09-25
- Volume
- 349
- Issue
- 6255
- Pages
- 1483-1489
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2204695746
- Cited by
- 1,396
- References
- 60
- Citations by year
- 2026: 75 · 2025: 118 · 2024: 162 · 2023: 177 · 2022: 185 · 2021: 139 · 2020: 144 · 2019: 114 · 2018: 105 · 2017: 95 · 2016: 67 · 2015: 12
- FWCI
- 9.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- somatic mutations, cancer, normal cells, mutational processes, tumor progression, aging, somatic evolution, cancer genome sequencing, developmental disorders, mutation accumulation
- MeSH terms
- Aging, DNA Mutational Analysis, Humans, Mutation, Neoplasms, Genome, Human, Mutagenesis, Evolution, Molecular
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