The DOI matches its Crossref record; 63 of the 66 references it cites were found in a registry or an index, and 3 are not checked yet.
The mutational landscape of normal human endometrial epithelium
Open accessPublished version of a preprint
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“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]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Fast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Self-citationIntegrated genomic characterization of endometrial carcinoma
The Cancer Genome Atlas Research Network, & Levine, D. A. (2013) · Nature · doi:10.1038/nature12113 · Cited by 5,784
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841
Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,625
Self-citationClonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
Genovese, G., Kähler, A. K., Handsaker, R. E., Lindberg, J., Rose, S. A., Bakhoum, S. F., Chambert, K., Mick, E., Neale, B. M., Fromer, M., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1409405 · Cited by 3,531
The repertoire of mutational signatures in human cancer
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature · doi:10.1038/s41586-020-1943-3 · Cited by 3,496
Self-citationYe, K., Schulz, M. H., Long, Q., Apweiler, R., & Ning, Z. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp394 · Cited by 2,029
Mutational Processes Molding the Genomes of 21 Breast Cancers
Nik-Zainal, S., Alexandrov, L. B., Wedge, D. C., Van Loo, P., Greenman, C. D., Raine, K., Jones, D., Hinton, J., Marshall, J., Stebbings, L. A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.024 · Cited by 1,909
Self-citation
Cited by
Sorted by citations
The evolutionary history of 2,658 cancers
Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature · doi:10.1038/s41586-019-1907-7 · Cited by 1,057
Self-citationThe landscape of somatic mutation in normal colorectal epithelial cells
Lee-Six, H., Olafsson, S., Ellis, P., Osborne, R. J., Sanders, M. A., Moore, L., Georgakopoulos, N., Torrente, F., Noorani, A., Goddard, M., et al. (2019) · Nature · doi:10.1038/s41586-019-1672-7 · Cited by 747
Self-citationClonal dynamics of haematopoiesis across the human lifespan
Mitchell, E., Chapman, M. S., Williams, N., Dawson, K. J., Mende, N., Calderbank, E. F., Jung, H., Mitchell, T. J., Coorens, T. H. H., Spencer, D. H., et al. (2022) · Nature · doi:10.1038/s41586-022-04786-y · Cited by 538
Self-citationSomatic mutation rates scale with lifespan across mammals
Cagan, A., Baez-Ortega, A., Brzozowska, N., Abascal, F., Coorens, T. H. H., Sanders, M. A., Lawson, A. R. J., Harvey, L. M. R., Bhosle, S., Jones, D., et al. (2022) · Nature · doi:10.1038/s41586-022-04618-z · Cited by 481
Self-citationPI3K inhibitors are finally coming of age
Vanhaesebroeck, B., Perry, M. W. D., Brown, J. R., André, F., & Okkenhaug, K. (2021) · Nature Reviews Drug Discovery · doi:10.1038/s41573-021-00209-1 · Cited by 494
Tumor initiation and early tumorigenesis: molecular mechanisms and interventional targets
Zhang, S., Xiao, X., Yi, Y., Wang, X., Zhu, L., Shen, Y., Lin, D., & Wu, C. H. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01848-7 · Cited by 463
The mutational landscape of human somatic and germline cells
Moore, L., Cagan, A., Coorens, T. H. H., Neville, M. D. C., Sanghvi, R., Sanders, M. A., Oliver, T. R. W., Leongamornlert, D., Ellis, P., Noorani, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03822-7 · Cited by 379
“(1) Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, CB10 1SA, 13 UK 14 (2) Department of Pathology, Cambridge University Hospitals NHS Foundation Trust, Hills Road, 15 Cambridge, CB2 0QQ, UK 16 (3) Department of Hematology, Erasmus University Medical Center, 3015 CN Rotterdam, The 17 Ne…”
BackgroundSelf-citationThe longitudinal dynamics and natural history of clonal haematopoiesis
Fabre, M. A., de Almeida, J. G., Fiorillo, E., Mitchell, E., Damaskou, A., Rak, J., Orrù, V., Marongiu, M., Chapman, M. S., Vijayabaskar, M. S., et al. (2022) · Nature · doi:10.1038/s41586-022-04785-z · Cited by 374
Self-citationExtensive heterogeneity in somatic mutation and selection in the human bladder
Lawson, A. R. J., Abascal, F., Coorens, T. H. H., Hooks, Y., O’Neill, L., Latimer, C., Raine, K., Sanders, M. A., Warren, A. Y., Mahbubani, K. T. A., et al. (2020) · Science · doi:10.1126/science.aba8347 · Cited by 311
Self-citationGenetic and non-genetic clonal diversity in cancer evolution
Black, J. R., & McGranahan, N. (2021) · Nature reviews. Cancer · doi:10.1038/s41568-021-00336-2 · Cited by 298
Mutational signatures: emerging concepts, caveats and clinical applications
Koh, C. C., Degasperi, A., Zou, X., Momen, S., & Nik‐Zainal, S. (2021) · Nature reviews. Cancer · doi:10.1038/s41568-021-00377-7 · Cited by 291
Life histories of myeloproliferative neoplasms inferred from phylogenies
Williams, N., Lee, J., Mitchell, E., Moore, L., Baxter, E. J., Hewinson, J., Dawson, K. J., Menzies, A., Godfrey, A. L., Green, A. R., et al. (2022) · Nature · doi:10.1038/s41586-021-04312-6 · Cited by 285
Self-citationZhou, Y., Bian, S., Zhou, X., Cui, Y., Wang, W., Wen, L., Guo, L., Fu, W., & Tang, F. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.09.015 · Cited by 278
Promises and challenges of adoptive T-cell therapies for solid tumours
Morotti, M., Albukhari, A., Alsaadi, A., Artibani, M., Brenton, J. D., Curbishley, S. M., Dong, T., Dustin, M. L., Hu, Z., McGranahan, N., et al. (2021) · British Journal of Cancer · doi:10.1038/s41416-021-01353-6 · Cited by 278
The Origin of Ovarian Cancer Species and Precancerous Landscape
Shih, I., Wang, Y., & Wang, T. (2020) · American Journal Of Pathology · doi:10.1016/j.ajpath.2020.09.006 · Cited by 265
Clonal expansion in non-cancer tissues
Kakiuchi, N., & Ogawa, S. (2021) · Nature Reviews Cancer · doi:10.1038/s41568-021-00335-3 · Cited by 252
Life histories of myeloproliferative neoplasms inferred from phylogenies.
Williams, N., Lee, J., Mitchell, E., Moore, L., Baxter, E. J., Hewinson, J., Dawson, K. J., Menzies, A. H., Godfrey, A. L., Green, A. R., et al. (2022) · RePEc: Research Papers in Economics · doi:10.17863/cam.80309 · Cited by 216
Self-citationInherent 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) · Nature · doi:10.1038/s41586-021-03345-1 · Cited by 215
Self-citationSomatic Evolution in Non-neoplastic IBD-Affected Colon
Ólafsson, S., McIntyre, R. E., Coorens, T. H. H., Butler, T. M., Jung, H., Robinson, P. S., Lee-Six, H., Sanders, M. A., Arestang, K., Dawson, C., et al. (2020) · Cell · doi:10.1016/j.cell.2020.06.036 · Cited by 213
Self-citationSpatial biology of cancer evolution
Seferbekova, Z., Lomakin, A., Yates, L. R., & Gerstung, M. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00553-x · Cited by 227
Macroscopic somatic clonal expansion in morphologically normal human urothelium
Li, R., Du, Y., Chen, Z., Xu, D., Lin, T., Jin, S., Wang, G., Liu, Z., Lu, M., Chen, X., et al. (2020) · Science · doi:10.1126/science.aba7300 · Cited by 206
Adenomyosis pathogenesis: insights from next-generation sequencing
Bulun, S. E., Yıldız, Ş., Adli, M., & Wei, J. (2021) · Human Reproduction Update · doi:10.1093/humupd/dmab017 · Cited by 216
Single-cell transcriptomic analysis of endometriosis
Fonseca, M. A., Haro, M., Wright, K. N., Lin, X., Abbasi, F., Sun, J. K., Hernández, L., Orr, N. L., Hong, J., Choi-Kuaea, Y., et al. (2023) · Nature Genetics · doi:10.1038/s41588-022-01254-1 · Cited by 206
APOBEC: A molecular driver in cervical cancer pathogenesis
Revathidevi, S., Murugan, A. K., Nakaoka, H., Inoue, I., & Munirajan, A. K. (2020) · Cancer Letters · doi:10.1016/j.canlet.2020.10.004 · Cited by 226
A body map of somatic mutagenesis in morphologically normal human tissues
Li, R., Di, L., Li, J., Fan, W., Liu, Y., Guo, W., Liu, W., Liu, L., Li, Q., Chen, L., et al. (2021) · Nature · doi:10.1038/s41586-021-03836-1 · Cited by 183
Dingler, F. A., Wang, M., Mu, A., Millington, C. L., Oberbeck, N., Watcham, S., Pontel, L. B., Kamimae-Lanning, A. N., Langevin, F., Nadler, C., et al. (2020) · Molecular Cell · doi:10.1016/j.molcel.2020.10.012 · Cited by 186
Mutant clones in normal epithelium outcompete and eliminate emerging tumours
Colom, B., Herms, A., Hall, M. W. J., Dentro, S. C., King, C., Sood, R. K., Alcolea, M. P., Piedrafita, G., Fernandez-Antoran, D., Ong, S. H., et al. (2021) · Nature · doi:10.1038/s41586-021-03965-7 · Cited by 192
Self-citationIncreased somatic mutation burdens in normal human cells due to defective DNA polymerases
Robinson, P. S., Coorens, T. H. H., Palles, C., Mitchell, E., Abascal, F., Olafsson, S., Lee, B. C. H., Lawson, A. R. J., Lee-Six, H., Moore, L., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00930-y · Cited by 173
Self-citationProgesterone Actions and Resistance in Gynecological Disorders
MacLean, J. A., & Hayashi, K. (2022) · Cells · doi:10.3390/cells11040647 · Cited by 199
Somatic mutation and clonal expansions in human tissues
Martincorena, I. (2019) · Genome Medicine · doi:10.1186/s13073-019-0648-4 · Cited by 172
Self-citationSomatic Mutations in “Benign” Disease
Mustjoki, S. M., & Young, N. S. (2021) · New England Journal of Medicine · doi:10.1056/nejmra2101920 · Cited by 169
Timing the Initiation of Multiple Myeloma
Rustad, E. H., Yellapantula, V., Leongamornlert, D., Bolli, N., Ledergor, G., Nadeu, F., Angelopoulos, N., Dawson, K. J., Mitchell, T. J., Osborne, R. J., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15740-9 · Cited by 165
Self-citationThe critical roles of somatic mutations and environmental tumor-promoting agents in cancer risk
Balmain, A. (2020) · Nature Genetics · doi:10.1038/s41588-020-00727-5 · Cited by 152
Embryonal precursors of Wilms tumor
Coorens, T. H. H., Treger, T. D., Al‐Saadi, R., Moore, L., Tran, M. G. B., Mitchell, T. J., Tugnait, S., Thevanesan, C., Young, M. D., Oliver, T. R. W., et al. (2019) · Science · doi:10.1126/science.aax1323 · Cited by 149
Self-citationCell competition in development, homeostasis and cancer
van Neerven, S. M., & Vermeulen, L. (2022) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-022-00538-y · Cited by 163
Yin, W., Wang, J., Jiang, L., & Kang, Y. J. (2021) · Experimental Biology and Medicine · doi:10.1177/15353702211005390 · Cited by 187
Ellis, P., Moore, L., Sanders, M. A., Butler, T. M., Brunner, S. F., Lee-Six, H., Osborne, R. J., Farr, B. W., Coorens, T. H. H., Lawson, A. R. J., et al. (2020) · Nature Protocols · doi:10.1038/s41596-020-00437-6 · Cited by 145
Self-citationExtensive phylogenies of human development inferred from somatic mutations
Coorens, T. H. H., Moore, L., Robinson, P. S., Sanghvi, R., Christopher, J., Hewinson, J., Przybilla, M. J., Lawson, A. R. J., Chapman, M. S., Cagan, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03790-y · Cited by 151
Self-citationClonal dynamics in early human embryogenesis inferred from somatic mutation
Park, S., Mali, N. M., Kim, R., Choi, J., Lee, J., Lim, J., Park, J. M., Park, J. W., Kim, D., Kim, T., et al. (2021) · Nature · doi:10.1038/s41586-021-03786-8 · Cited by 146
Oncogenic mutations in histologically normal endometrium: the new normal?
Lac, V., Nazeran, T. M., Tessier‐Cloutier, B., Aguirre-Hernández, R., Albert, A., Lum, A. M., Khattra, J. S., Praetorius, T., Mason, M., Chiu, D. S., et al. (2019) · The Journal of Pathology · doi:10.1002/path.5314 · Cited by 139
“found two or more driver mutations in single endometrial glands in 22% of specimens[35], suggesting an elevated probability, albeit still nonconclusive, that driver mutations may co-exist in the same non-cancerous cells.”
BackgroundResultMethylation across the central dogma in health and diseases: new therapeutic strategies
Liu, R., Zhao, E., Yu, H., Yuan, C., Abbas, M. N., & Cui, H. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01528-y · Cited by 155
Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations
Inoue, S., Hirota, Y., Ueno, T., Fukui, Y., Yoshida, E., Hayashi, T., Kojima, S., Takeyama, R., Hashimoto, T., Kiyono, T., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13708-y · Cited by 143
Oben, B., Froyen, G., Maclachlan, K. H., Leongamornlert, D., Abascal, F., Zheng-Lin, B., Yellapantula, V., Derkach, A., Geerdens, E., Diamond, B. T., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22140-0 · Cited by 129
Self-citationMuter, J., Lynch, V. J., McCoy, R. C., & Brosens, J. J. (2023) · Development · doi:10.1242/dev.201507 · Cited by 134
Self-citationThe cycling and aging mouse female reproductive tract at single-cell resolution
Winkler, I., Tolkachov, A., Lammers, F., Lacour, P., Daugėlaitė, K., Schneider, N. G., Koch, M.-L., Panten, J., Grünschläger, F., Poth, T., et al. (2024) · Cell · doi:10.1016/j.cell.2024.01.021 · Cited by 135
“73,74 Our study determined that cycling generates a detrimental microenvironment that may compound the effect of estrogen-dependent mutagenesis in the endometrium.”
Three-dimensional understanding of the morphological complexity of the human uterine endometrium
Yamaguchi, M., Yoshihara, K., Suda, K., Nakaoka, H., Yachida, N., Ueda, H., Sugino, K., Mori, Y., Yamawaki, K., Tamura, R., et al. (2021) · iScience · doi:10.1016/j.isci.2021.102258 · Cited by 123
Mechanisms of Regeneration and Fibrosis in the Endometrium
Ang, C. J., Skokan, T. D., & McKinley, K. L. (2023) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-011723-021442 · Cited by 122
The translational challenges of precision oncology
Pich, O., Bailey, C., Watkins, T. B. K., Zaccaria, S., Jamal‐Hanjani, M., & Swanton, C. (2022) · Cancer Cell · doi:10.1016/j.ccell.2022.04.002 · Cited by 116
Rouhani, F. J., Zou, X., Danecek, P., Badja, C., Amarante, T. D., Koh, G., Wu, Q., Memari, Y., Durbin, R., Martincorena, I., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01147-3 · Cited by 105
Molecular Basis of Endometriosis and Endometrial Cancer: Current Knowledge and Future Perspectives
Terzić, M., Aimagambetova, G. N., Kunz, J., Bapayeva, G., Aitbayeva, B., Terzic, S., & Laganà, A. S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179274 · Cited by 115
Clonal hematopoiesis, somatic mosaicism, and age-associated disease
Evans, M. A., & Walsh, K. X. (2022) · Physiological Reviews · doi:10.1152/physrev.00004.2022 · Cited by 112
Organoids of the female reproductive tract
Chumduri, C., & Turco, M. Y. (2021) · Journal of Molecular Medicine · doi:10.1007/s00109-020-02028-0 · Cited by 110
Cancer-associated mutations in endometriosis: shedding light on the pathogenesis and pathophysiology
Guo, S.-W. (2020) · Human Reproduction Update · doi:10.1093/humupd/dmz047 · Cited by 96
Giudice, L. C., Oskotsky, T., Falako, S., Opoku‐Anane, J., & Sirota, M. (2023) · The FASEB Journal · doi:10.1096/fj.202300907 · Cited by 110
New approaches for targeting platinum-resistant ovarian cancer
McMullen, M., Madariaga, A., & Lheureux, S. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2020.08.013 · Cited by 88
Samartzis, E. P., Labidi‐Galy, S. I., Moschetta, M., Uccello, M., Kalaitzopoulos, D. R., Fidalgo, J. A. P., & Boussios, S. (2020) · Annals of Translational Medicine · doi:10.21037/atm-20-3022a · Cited by 83
Evolutionary histories of breast cancer and related clones
Nishimura, T., Kakiuchi, N., Yoshida, K., Sakurai, T., Kataoka, T. R., Kondoh, E., Chigusa, Y., Kawai, M., Sawada, M., Inoue, T., et al. (2023) · Nature · doi:10.1038/s41586-023-06333-9 · Cited by 85
Pathology and Pathogenesis of Adenomyosis
Antero, M. F., Ayhan, A., Segars, J. H., & Shih, I. (2020) · Seminars in Reproductive Medicine · doi:10.1055/s-0040-1718922 · Cited by 85
Cellular barcoding to decipher clonal dynamics in disease
Sankaran, V. G., Weissman, J. S., & Zon, L. I. (2022) · Science · doi:10.1126/science.abm5874 · Cited by 83
Cochrane, D. R., Campbell, K. R., Greening, K., Ho, G. C., Hopkins, J., Bui, M., Douglas, J. M., Sharlandjieva, V., Munzur, A. D., Lai, D., et al. (2020) · The Journal of Pathology · doi:10.1002/path.5511 · Cited by 84
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer
Webster, A., Sanders, M. A., Patel, K., Dietrich, R., Noonan, R. J., Lach, F. P., White, R. R., Goldfarb, A. M., Hadi, K., Edwards, M. M., et al. (2022) · Nature · doi:10.1038/s41586-022-05253-4 · Cited by 96
Self-citationEndometriosis-Associated Ovarian Cancer: The Origin and Targeted Therapy
Murakami, K., Kotani, Y., Nakai, H., & Matsumura, N. (2020) · Cancers · doi:10.3390/cancers12061676 · Cited by 83
The Somatic Mosaicism across Human Tissues Network
Coorens, T. H. H., Oh, J. W., Choi, Y. A., Lim, N. S., Zhao, B., Voshall, A., Abyzov, A. S., Antonacci-Fulton, L. L., Aparicio, S. A. J. R., Ardlie, K., et al. (2025) · Nature · doi:10.1038/s41586-025-09096-7 · Cited by 82
“For a few assays intact tissue samples were also used to generate the data ( Table S2 ).”
Self-citationClonal hematopoiesis and inflammation – the perpetual cycle
Avagyan, S., & Zon, L. I. (2023) · Trends in Cell Biology · doi:10.1016/j.tcb.2022.12.001 · Cited by 79
Pathogenesis of Endometriosis and Endometriosis-Associated Cancers
Adilbayeva, A., & Kunz, J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25147624 · Cited by 94
“DNA-based analyses have revealed clonality within regions sampled from the same lesion and across different lesions [114,115,121].”
BackgroundInfluentialAge-associated differences in the cancer molecular landscape
Chatsirisupachai, K., Lagger, C., & de Magalhães, J. P. (2022) · Trends in cancer · doi:10.1016/j.trecan.2022.06.007 · Cited by 83
Clonal dynamics of haematopoiesis across the human lifespanPreprint
Mitchell, E., Chapman, M. S., Williams, N., Dawson, K. J., Mende, N., Calderbank, E. F., Jung, H., Mitchell, T. J., Coorens, T. H. H., Spencer, D. H., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.08.16.456475 · Cited by 74
Self-citationContrasting somatic mutation patterns in aging human neurons and oligodendrocytes
Ganz, J., Luquette, L. J., Bizzotto, S., Miller, M. B., Zhou, Z., Bohrson, C. L., Jin, H., Tran, A. V., Viswanadham, V., McDonough, G. A., et al. (2024) · Cell · doi:10.1016/j.cell.2024.02.025 · Cited by 77
Ultraviolet radiation shapes dendritic cell leukaemia transformation in the skin
Griffin, G. K., Booth, C. A. G., Togami, K., Chung, S. S., Ssozi, D., Verga, J. A., Bouyssou, J., Lee, Y. S., Shanmugam, V., Hornick, J. L., et al. (2023) · Nature · doi:10.1038/s41586-023-06156-8 · Cited by 70
Molecular origins of APOBEC-associated mutations in cancer
Petljak, M., & Maciejowski, J. (2020) · DNA repair · doi:10.1016/j.dnarep.2020.102905 · Cited by 76
Synonymous mutations reveal genome-wide levels of positive selection in healthy tissues
Poon, G. Y. P., Watson, C. J., Fisher, D. S., & Blundell, J. R. (2021) · Nature Genetics · doi:10.1038/s41588-021-00957-1 · Cited by 67
Pathogenesis of Human Adenomyosis: Current Understanding and Its Association with Infertility
Khan, K. N., Fujishita, A., & Mori, T. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11144057 · Cited by 77
APOBEC3-mediated mutagenesis in cancer: causes, clinical significance and therapeutic potential
Butler, K. E., & Banday, A. R. (2023) · Journal of Hematology & Oncology · doi:10.1186/s13045-023-01425-5 · Cited by 84
Histological 3D reconstruction and in vivo lineage tracing of the human endometrium
Tempest, N., Jansen, M., Baker, A., Hill, C. J., Hale, M., Magee, D. R., Treanor, D. E., Wright, N. A., & Hapangama, D. K. (2020) · The Journal of Pathology · doi:10.1002/path.5478 · Cited by 70
Somatic mutations provide important and unique insights into the biology of complex diseases
Ólafsson, S., & Anderson, C. A. (2021) · Trends in Genetics · doi:10.1016/j.tig.2021.06.012 · Cited by 72
New concepts on the etiology of endometriosis
Cousins, F. L., McKinnon, B. D., Mortlock, S., Fitzgerald, H. C., Zhang, C., Montgomery, G. W., & Gargett, C. E. (2023) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15549 · Cited by 89
Widespread somatic L1 retrotransposition in normal colorectal epithelium
Nam, C. H., Youk, J., Kim, J. Y., Lim, J., Park, J. W., Oh, S. A., Lee, H. J., Won, H., Won, H., Lee, D.-S., et al. (2023) · Nature · doi:10.1038/s41586-023-06046-z · Cited by 71
Normal Somatic Mutations in Cancer Transformation
Wijewardhane, N., Dreßler, L., & Ciccarelli, F. D. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.11.002 · Cited by 70
Emerging strategies to investigate the biology of early cancer
Zhou, R., Tang, X., & Wang, Y. (2024) · Nature reviews. Cancer · doi:10.1038/s41568-024-00754-y · Cited by 72
One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids
Geurts, M. H., Gandhi, S., Boretto, M. G., Akkerman, N., Derks, L. L. M., van Son, G., Celotti, M., Harshuk-Shabso, S., Peci, F., Begthel, H., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40701-3 · Cited by 66
Genetic Susceptibility to Endometrial Cancer: Risk Factors and Clinical Management
Dörk, T., Hillemanns, P., Tempfer, C., Breu, J., & Fleisch, M. C. (2020) · Cancers · doi:10.3390/cancers12092407 · Cited by 69
Fluctuating methylation clocks for cell lineage tracing at high temporal resolution in human tissues
Gabbutt, C., Schenck, R. O., Weisenberger, D. J., Kimberley, C., Berner, A., Househam, J., Lakatos, E., Robertson‐Tessi, M., Martín, I. R., Patel, R., et al. (2022) · Nature Biotechnology · doi:10.1038/s41587-021-01109-w · Cited by 63
Robinson, P. S., Thomas, L. E., Abascal, F., Jung, H., Harvey, L. M. R., West, H. D., Ólafsson, S., Lee, B. C. H., Coorens, T. H. H., Lee-Six, H., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31341-0 · Cited by 63
“Lower than expected burdens of SBS1 and SBS5 were observed in most individuals in this study due to: (1) the inherent challenges of accurately estimating mutation burden in highly mutated samples and (2) the appreciable contamination of reference signatures with SBS1 and SBS5.”
BackgroundMethodSelf-citationMarchetti, F., Cardoso, R., Chen, C. L., Douglas, G. R., Elloway, J. M., Escobar, P. A., Harper, T. A., Heflich, R. H., Kidd, D., Lynch, A. M., et al. (2023) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2023.108466 · Cited by 71
Endometriosis-Associated Ovarian Carcinomas: How PI3K/AKT/mTOR Pathway Affects Their Pathogenesis
Driva, T. S., Schatz, C., & Haybaeck, J. (2023) · Biomolecules · doi:10.3390/biom13081253 · Cited by 68
“Additionally, driver mutati n have been found in enes coding for upstream effectors of the PI3K/AKT/mTOR pathway, such as growth factor r ceptors like ERBB2, ERBB3, and FGFR2 [32].”
BackgroundRando, T. A., Brunet, A., & Goodell, M. A. (2025) · Cell stem cell · doi:10.1016/j.stem.2025.06.004 · Cited by 68
“74 Many of the genes which accumulate mutations are thought to have the potential to contribute to malignancy development.”
Genome-Wide Estrogen Receptor Activity in Breast Cancer
Farcas, A. M., Nagarajan, S., Cosulich, S. C., & Carroll, J. S. (2020) · Endocrinology · doi:10.1210/endocr/bqaa224 · Cited by 60
The somatic mutation landscape of normal gastric epithelium
Coorens, T. H. H., Collord, G., Jung, H., Wang, Y., Moore, L., Hooks, Y., Mahbubani, K., Law, S. Y. K., Yan, H. H. N., Yuen, S. T., et al. (2025) · Nature · doi:10.1038/s41586-025-08708-6 · Cited by 57
“Somatic copy-number variants (CNVs) and structural variants were observed in a minority of normal gastric glands (73 of 217), but never-theless at considerably higher prevalence than other normal human cell types studied thus far 1,6,11 (Fig.”
Self-citationUnderstanding oncogenicity of cancer driver genes and mutations in the cancer genomics era
Porta‐Pardo, E., Valencia, A., & Godzik, A. (2020) · FEBS Letters · doi:10.1002/1873-3468.13781 · Cited by 57
APOBEC mutagenesis is a common process in normal human small intestine
Wang, Y., Robinson, P. S., Coorens, T. H. H., Moore, L., Lee-Six, H., Noorani, A., Sanders, M. A., Jung, H., Katainen, R., Heuschkel, R. B., et al. (2023) · Nature Genetics · doi:10.1038/s41588-022-01296-5 · Cited by 65
Self-citationKennedy, S. R., Zhang, Y., & Risques, R. A. (2019) · Trends in cancer · doi:10.1016/j.trecan.2019.07.007 · Cited by 59
The origin of human mutation in light of genomic data
Seplyarskiy, V. B., & Sunyaev, S. R. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00376-2 · Cited by 58
Accurate and sensitive mutational signature analysis with MuSiCal
Jin, H., Gulhan, D., Geiger, B., Ben-Isvy, D., Geng, D., Ljungström, V., & Park, P. J. (2024) · Nature Genetics · doi:10.1038/s41588-024-01659-0 · Cited by 54
“Some studies have noticed this problem and have manually combined SBS40 with other flat signatures 46,47 .”
BackgroundDevelopmental and temporal characteristics of clonal sperm mosaicism
Yang, X., Breuss, M. W., Xu, X., Antaki, D., James, K. N., Stanley, V., Ball, L., George, R. D., Wirth, S. A., Cao, B., et al. (2021) · Cell · doi:10.1016/j.cell.2021.07.024 · Cited by 55
Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium
Yamaguchi, M., Nakaoka, H., Suda, K., Yoshihara, K., Ishiguro, T., Yachida, N., Saito, K., Ueda, H., Sugino, K., Mori, Y., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28568-2 · Cited by 54
The DNA methylome of cervical cells can predict the presence of ovarian cancer
Barrett, J. J. E., Jones, A., Evans, I., Reisel, D., Herzog, C. M. S., Chindera, K., Kristiansen, M., Leavy, O. C., Manchanda, R., Bjørge, L., et al. (2022) · Nature Communications · doi:10.1038/s41467-021-26615-y · Cited by 53
Doyle, S. R., Sankaranarayanan, G., Allan, F., Berger, D., Castro, P. D. J., Collins, J. B., Crellen, T., Correa, M. A. D., Ellis, P., Jaleta, T. G., et al. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00826 · Cited by 54
“CGP (CGP): Extraction using the CGP protocol (Moore et al., 2018) involved adding 30 μl of lysis buffer (1.”
MethodSelf-citationSaini, N., Giacobone, C. K., Klimczak, L. J., Papas, B. N., Burkholder, A., Li, J., Fargo, D. C., Bai, R., Gerrish, K., Innes, C. L., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009302 · Cited by 53
Williams, N., Lee, J., Moore, L., Baxter, E. J., Hewinson, J., Dawson, K. J., Menzies, A. H., Godfrey, A. L., Green, A. R., Campbell, P. J., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.11.09.374710 · Cited by 56
Self-citationThe mutational landscape of human somatic and germline cells
Moore, L., Cagan, A., Coorens, T. H. H., Neville, M. D. C., Sanghvi, R., Sanders, M. A., Oliver, T. R. W., Leongamornlert, D. A., Ellis, P., Noorani, A., et al. (2022) · Yearbook of pediatric endocrinology · doi:10.1101/2020.11.25.398172 · Cited by 55
Self-citation
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
