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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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“Normal epithelium on the other hand displays very rarely copy number alterations (11) but may instead harbor numerous somatic mutations (12 – 14).”
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“…example, most mutant clones with cancer drivers are confined to the clonal unit of a single gland in normal tissues such as colon and endometrium [7,8], while mutant clones with cancer drivers are mosaically distributed in normal tissues with planar epithelium without structural restraints, such…”
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BackgroundPopulation dynamics is a cancer driver
Oliveira, M. D. S., Griebeler, M. D. C., Henz, B., dos Santos, F. F., Guardia, G. D. A., Conceição, H. B., Galante, P. A. F., Minussi, D. C., Oliveira, M. M., & Lenz, G. (2024) · Carcinogenesis · doi:10.1093/carcin/bgae038
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MethodSelf-citationConcurrent PIK3CA mutant drives cachexia through inflammatory signaling in EGFR mutant lung cancerPreprint
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Étude des paralogues ARHGAP35/p190A et ARHGAP5/p190B et de leur impact dans le cancer de l’endomètre
Pinault, M. (2022) · theses.fr (ABES) · doi:10.70675/3bf7f9aez3e81z45dfzbabcz1acc41a1ffca
Somatic mutation landscape revealed by non-invasive iPSC derivation from urine cellsPreprint
Bae, T., Tomasini, L., Klimczak, L. J., Kayastha, M., Šuvakov, M., Jang, Y., Jourdon, A., Gordenin, D. A., Vaccarino, F. M., & Abyzov, A. S. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.11.717904
Comparison between genomic alterations in mouse, pig, and human through whole-genome sequencing
Bae, G. H., Kwon, S. G., Choi, J.-W., Hong, J. H., Jeon, C., Cho, A., Shin, J., Jun, M. S., Han, M., Choi, S. H., et al. (2026) · Journal of Genetics · doi:10.1007/s12041-026-01523-6
Cancer signaling beyond the genes
Levchenko, A., & Madsen, R. R. (2026) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2026.102643
Perdomo, S. P., de Carvalho, A. C., Ferreiro-Iglesias, A., Pinto, L. F. R., Shibata, T., & Brennan, P. (2026) · JNCI Monographs · doi:10.1093/jncimonographs/lgaf045
Reconstruction of Tumor Evolution: Bulk Versus Single-Cell Approach
Xiao, J., He, K., Su, P., Zhu, J., Wang, N., Han, Z., & Su, X. (2026) · Journal of Shanghai Jiaotong University (Science) · doi:10.1007/s12204-026-2914-0
Clear cell carcinoma developed on hepatic endometriosis: a case report and review of the literature
Chilà, C., Kermarrec, É., Loi, V., Ilic, J., Zerbib, E., Ferrier, C., Dahan, M., Dabi, Y., Touboul, C., & Daraï, É. (2026) · Journal of Gynecology Obstetrics and Human Reproduction · doi:10.1016/j.jogoh.2026.103200
Somatic mutations in endometrial epithelium: biological insights and emerging in vitro models
Subramaniam, S., Gargett, C. E., Fitzgerald, H. C., Montgomery, G. W., & McKinnon, B. D. (2026) · Molecular Human Reproduction · doi:10.1093/molehr/gaag027 · Cited by 1
“Analysis of 257 histologically normal endometrial glands from 28 women found 12 genes that displayed positive selection within glands: PIK3CA, PIK3R1 , ARHGAP35 , F-Box , and WD Repeat Domain-Containing 7 (FBXW7) , Zinc Finger Homeobox 3 (ZFHX3) , Forkhead Box A2 (FOXA2) , Erb-B2 Receptor Tyrosine Kinase 2 (ERBB2) , C…”
InfluentialOlaitan, A., Pashayan, N., Butler, J., Cibula, D., Costas, L., Crosbie, E. J., Falconer, H., Fotopoulou, C., Akapo, P. K., MacDonald, N., et al. (2026) · International Journal of Gynecological Cancer · doi:10.1016/j.ijgc.2026.104772
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“Since each endometrial gland originates from a single progenitor cell 43 , the effects of the inflammatory decidual reaction on glandular morphology and gene expression are likely to be more spatially coordinated and transcriptionally coherent than the corresponding changes in stromal or immune…”
Self-citationRamnarayanan, S., Koya, R., Soszynska-Jozwiak, M., Szabat, M., Roban, J., Bhutada, S., Dhaka, B., Schaefer, T., Tham, A. M., Guillen-Ramirez, H., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.10.730876
Human meningiomas arise from developmental meningeal mosaicismPreprint
Chung, Y. S., Cho, H. J., Kim, T. H., Kim, S. H., Chung, T., Choi, S., Roh, T. H., Moon, J. I., Kim, E. H., Lee, C. K., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.13.732068
The Tumor Multi-Omic Landscape of Endometrial Cancers Developed on a Background of Adiposity
Richenberg, G., Francis, A., Owen, C. N., Gray, V., Robinson, T., Gabriel, A. A., Lawrenson, K., Davidson, E. J., Schildkraut, J. M., Mckay, J., et al. (2026) · Genes · doi:10.3390/genes17070744 · 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 [54].”
Liu, H., & Tang, L. (2026) · Open Life Sciences · doi:10.1515/biol-2025-1338
“Both conditions are oestrogen-dependent, and the local hyperoestrogenic environment created by endometriotic lesions through aromatase expression may promote polyp formation [17].”
Diekmann, I., Choi, Y.-J., Supali, T., Alfian, R., Destani, Y., Iskandar, E., Sugianto, N., Mutalip, M. H. A., Aziz, N. A. A., Ibrahim, K., et al. (2026) · PLoS neglected tropical diseases · doi:10.1371/journal.pntd.0014015
“To confirm a successful DNA isolation, a qPCR assay was performed to amplify a 28S ribosomal RNA pan-filarial fragment. qPCR conditions and primer pairs were described in previous studies [11,20].”
Somatic mutations in human ontogenesis and their impact on health
Sergeyev, O., Ашапкин, В., Korostin, D. O., Bezuglov, V., Suvorov, A., Rebrikov, D., & Chernykh, V. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103338
Nikaido-Landry, T., Zhang, Y., & Lim, E. L. (2026) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2024.0508 · Cited by 1
Pinault, M., Héraud, C., de Oliveira, M. C., Neaud, V., Valesco, V., Prouzet‐Mauleon, V., Turcq, B., Dupuy, J., Raymond, A., Croce, S., et al. (2026) · Molecular Oncology · doi:10.1002/1878-0261.70335
“Indeed, the endometrium was described as one of the tissues that surprisingly displays frequent mutations in cancer genes [30,31].”
Engineering the human endometrium at the intersection of development and reproduction
Vélez-Avilés, A. N., Abel, A., Taylor, H. S., & Sözen, B. (2026) · Nature Biomedical Engineering · doi:10.1038/s41551-026-01789-2
“…and the selective pressures imposed by in vitro culture, it remains unclear whether orga-noids preferentially expand epithelial clones with growth-advantaging mutations, or how such mutations may influence epithelial behaviour, differentiation potential or disease-modelling outcomes 163,164 .”
Garcini, F. J. (2026) · Journal of Endometriosis and Uterine Disorders · doi:10.1016/j.jeud.2026.100187
Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesisPreprint
Annapragada, A. V., White, J., Orjuela, H., Bartolomucci, A. L., Eastman, A. C., Koul, S., Lebarbenchon, K. P., Bruhm, D. C., Short, S., Boyapati, K., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.09.22.753313
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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