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The mutational landscape of normal human endometrial epithelium
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Abstract
All normal somatic cells are thought to acquire mutations, but understanding of the rates, patterns, causes and consequences of somatic mutations in normal cells is limited. The uterine endometrium adopts multiple physiological states over a lifetime and is lined by a gland-forming epithelium1,2. Here, using whole-genome sequencing, we show that normal human endometrial glands are clonal cell populations with total mutation burdens that increase at about 29 base substitutions per year and that are many-fold lower than those of endometrial cancers. Normal endometrial glands frequently carry ‘driver’ mutations in cancer genes, the burden of which increases with age and decreases with parity. Cell clones with drivers often originate during the first decades of life and subsequently progressively colonize the epithelial lining of the endometrium. Our results show that mutational landscapes differ markedly between normal tissues—perhaps shaped by differences in their structure and physiology—and indicate that the procession of neoplastic change that leads to endometrial cancer is initiated early in life. Whole-genome sequencing of normal human endometrial glands shows that most are clonal cell populations and frequently carry cancer driver mutations that occur early in life, and that parity has a protective effect.
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“Taken together, these results demonstrate the significant advantage the toolkit we have developed in this study has to generate isogenic models of novel mutations in early tumorigenesis48,50–52.”
From One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids (2023) · cites this paper as [51]
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“While this hypothesis has been previously proposed48,50–52, it had never before been tested in an isogenic model.”
From One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids (2023) · cites this paper as [51]
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A catalogue of cancer-driving mutations in healthy tissue
Bae-Jump, V. L., & Levine, D. A. (2020) · Nature · doi:10.1038/d41586-020-01081-6 · Cited by 3
Inherent mosaicism and extensive mutation of human placentas
Coorens, T. H. H., Oliver, T. R. W., Sanghvi, R., Sovio, U., Cook, E., Vento‐Tormo, R., Haniffa, M. A., Young, M. D., Rahbari, R., Sebire, N. J., et al. (2021) · Yearbook of pediatric endocrinology · doi:10.1530/ey.18.14.7 · Cited by 3
Self-citationClonal Architecture of the Epidermis: Homeostasis Limits Keratinocyte EvolutionPreprint
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“Over the last decade, DNA sequencing has enabled the detection of vast quantities of mutations occurring in normal tissue samples (4-8).”
BackgroundClonal diversification and histogenesis of malignant germ cell tumoursPreprint
Oliver, T. R. W., Chappell, L., Sanghvi, R., Deighton, L., Ansari‐Pour, N., Dentro, S. C., Young, M. D., Coorens, T. H. H., Jung, H., Butler, T. M., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.01.478621 · Cited by 3
Self-citationRichenberg, G., Francis, A., Owen, C. N., et al. (2023) · medRxiv · doi:10.1101/2023.10.09.23296765 · Cited by 3
“Interestingly, SBS1 and SBS5 (along with SBS18, which we could not evaluate due to inadequate numbers) are the only SBS signatures found in normal endometrial epithelial cells (53).”
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Henriquez, M. C., Hamou, H., Churcher, J., et al. (2024) · International Journal of Primatology · doi:10.1007/s10764-024-00467-x · Cited by 2
“…DNA yield by checking the DNA concentrations of individual samples using a Qubit dsDNA High Sensitivity Assay Kit (Thermo Fisher Scientific) following the DNA extractions, and found that the Moore et al. (2018) was the most efficient protocol, so we proceeded to use it for our remaining samples.”
Systemic comorbidities in patients with adenomyosis
Gallone, A., Vannuccini, S., Manzi, V., Torre, F. L., Toscano, F., Giani, M., Fambrini, M., Chedraui, P. A., & Petraglia, F. (2025) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2025.105102 · Cited by 2
First Explore, Then Settle: A Theoretical Analysis of Evolvability as a Driver of Adaptation
Jiménez-Sánchez, J., Ortega-Sabater, C., Maini, P. K., Pérez‐García, V. M., & Lorenzi, T. (2026) · Bulletin of Mathematical Biology · doi:10.1007/s11538-025-01561-8 · Cited by 2
“…earlier studies indicating that low values of evolvability are positively selected in undisturbed environments and ensure balance and homeostasis at all levels of organisation (Chatterjee and Walker 2017; Lee-Six et al. 2019; Moore et al. 2020; Cagan et al. 2022; Lynch 2011; Zeldovich et al. 2007).”
Bile acids enrichment fuel tumor aerobic glycolysis and immune evasion via stabilizing FXR-RARα
Jiang, H., Xiong, W., Feng, Y., Li, X., Tan, J., & Zhang, Z. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1750358 · Cited by 2
“While genomic mutations play a pivotal role in tumor development, recent deep-sequencing studies have revealed that somatic mutations are surprisingly abundant even in normal tissues, suggesting that mutations alone are insuf fi cient for malignant transformation (22 – 28).”
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“For example, genomic studies indicate an age-related accumulation of somatic mutations in endometrial glands 110 , while integrated omics approaches highlight associated metabolic dysregulation, exempli fi ed by overactive mTOR signaling 111,112 , and a chronic in fl am-matory state within the aging…”
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“The shared mutational landscape between precursor lesions and adjacent carcinomas supports a model of clonal progression, wherein endometriotic cells undergo stepwise evolutionary shifts toward malignancy [45,51].”
A single-cell lens into the co-evolution of genotypes and phenotypes in cancer
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Religious fasting and the vascular health
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Endometrial Determinism of Endometriosis: An Unnecessary Adjunct to Retrograde Menstruation
Habiba, M. A., Guo, S., & Benagiano, G. (2024) · Current Obstetrics and Gynecology Reports · doi:10.1007/s13669-024-00378-x · Cited by 3
“The eutopic and ectopic endometrium in the same patient share similar cancer-associated mutations (CAM) [128], but no phylogenetic relationship has been established among these ubiquitous mutations that also exist in other endometrial pathologies [138, 139].”
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TP53 somatic evolution in the normal endometrium of Black and White individuals
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Keahi, D., Sanders, M. A., Paul, M. R., Webster, A., Fang, Y., Wiley, T. F., Shalaby, S., Carroll, T. S., Chandrasekharappa, S. C., Sandoval-Garcia, C., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2503872122 · Cited by 2
“70 and 71 and described further in SI Appendix , Supplemental Materials and Methods .”
Self-citationRadiation effects research foundation—a view to the future
Gray, J. W., & Feinberg, A. P. (2025) · Carcinogenesis · doi:10.1093/carcin/bgaf061 · Cited by 2
“Application of single cell sequencing might also reveal the existence of subpopulations of cells carrying disease-linked genomic aberrations that put the individual at increased risk of disease progression [63, 64].”
Clonal competition in a confined space
Naxerova, K. (2020) · Nature Genetics · doi:10.1038/s41588-020-0638-x · Cited by 2
Mutations in Non-Tumoral Human Urothelium: Disease Prelude or Epilogue?
Piedrafita, G., Fernández, L. C., & Real, F. X. (2020) · Bladder Cancer · doi:10.3233/blc-200363 · Cited by 2
β‐catenin signatures in the fallopian tube: an emerging concept
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A novel resource to study endometriosis at the single-cell level
García‐Alonso, L., Zondervan, K. T., & Tormo, R. V. (2023) · Nature Reviews Endocrinology · doi:10.1038/s41574-023-00814-7 · Cited by 2
Information: Its Role and Meaning in Organisms
Konieczny, L., Roterman‐Konieczna, I., & Spólnik, P. (2023) · Springer eBooks · doi:10.1007/978-3-031-31557-2_3 · Cited by 3
Genetics and genomics of endometriosis☆
Giudice, L. C., Burney, R. O., Becker, C. M., Missmer, S. A., Montgomery, G. W., Rahmioğlu, N., Rogers, P. A. W., & Zondervan, K. T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91380-5.00018-6 · Cited by 2
Doyle, S. R., Sankaranarayanan, G., Allen, F., Berger, D., Castro, P. D. J., Collins, J. B., Crellen, T., Correa, M. A. D., Ellis, P., Jaleta, T. G., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/616672 · Cited by 2
Self-citationThe special issue on cancer and evolution: Lessons learned
DeGregori, J. V. (2020) · Evolutionary Applications · doi:10.1111/eva.13040 · Cited by 2
Metadata
- Authors
- Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., Maura, F., Nangalia, J., Tarpey, P. S., Brunner, S. F., Lee-Six, H., Hooks, Y., Moody, S., Mahbubani, K. T., Jimenez-Linan, M., Brosens, J. J., Iacobuzio-Donahue, C. A., Martincorena, I., Saeb-Parsy, K., Campbell, P. J., & Stratton, M. R.
- Affiliations
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Wellcome Sanger Institute (GB)
- Erasmus MC (NL)
- European Bioinformatics Institute (GB)
- Memorial Sloan Kettering Cancer Center (US)
- University of Cambridge (GB)
- University of Warwick (GB)
- Corresponding author
- Stratton, Michael R.
- ORCID
- Moore, Luiza
- Leongamornlert, Daniel
- Coorens, Tim H. H.
- Sanders, Mathijs A.
- Dentro, Stefan C.
- Butler, Tim
- Rahbari, Raheleh
- Mitchell, Thomas J.
- Maura, Francesco
- Nangalia, Jyoti
- Tarpey, Patrick S.
- Lee-Six, Henry
- Moody, Sarah
- Mahbubani, Krishnaa T.
- Brosens, Jan J.
- Iacobuzio-Donahue, Christine A.
- Saeb-Parsy, Kourosh
- Campbell, Peter J.
- Stratton, Michael R.
- Venue
- Nature
- Published
- 2020-04-22
- Volume
- 580
- Issue
- 7805
- Pages
- 640-646
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W3020114628
- Semantic Scholar
- 64bced314a97056c50b400d859c78993c4ce2fd8
- Cited by
- 499
- References
- 64
- Citations by year
- 2026: 42 · 2025: 54 · 2024: 69 · 2023: 87 · 2022: 91 · 2021: 89 · 2020: 51
- FWCI
- 27.19
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- Nature (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Science Foundation
- European Hematology Association (TRTH182)
- Wellcome Trust (103858/Z/14/Z)
- Cancer Research UK (C20/A20917, 23917, 27176, 21777, 27114)
- Pathological Society of Great Britain and Ireland
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (171753, 180790)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (019.153LW.038)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Epidemiology › Cervical Cancer and HPV Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- somatic mutations, endometrial epithelium, endometrial cancer, clonal cell populations, mutational burden, driver mutations, cancer genes, parity, aging, mutational landscape, tumor progression, endometrial glands
- MeSH terms
- Adult, Aged, Aged, 80 and over, Aging, Clone Cells, DNA Mutational Analysis, Endometrium, Epithelial Cells, Epithelium, Female, Health, Humans, Middle Aged, Mutation, Parity, Time Factors, Endometrial Neoplasms, Age of Onset, Young Adult, Carcinogenesis
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