New Lessons about Endometriosis — Somatic Mutations and Disease Heterogeneity
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This paper explores somatic mutations and disease heterogeneity in endometriosis, a common estrogen-dependent inflammatory disorder affecting women of reproductive age and contributing to infertility and pelvic pain.
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Abstract
Endometriosis is a common estrogen-dependent inflammatory disorder that affects 6 to 10% of women of reproductive age and up to 50% of women with infertility and pelvic pain.1 Endometriosis is a complex disease with risk influenced by many factors; its pathogenesis is poorly understood, and current treatments have limitations.2 A role for genetics is well established, with approximately 50% of risk due to genetic factors and 50% due to environmental or other causes.3 The disease is heterogeneous, with multiple ectopic lesions containing endometrial-like tissue outside the uterus, primarily in the pelvic cavity.1 The lesions may be one of three types: . . .
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References (10)
- Cancer-Associated Mutations in Endometriosis without Cancer via openalex
- Endometriosis via openalex
- Endometriosis risk alleles at 1p36.12 act through inverse regulation of<i>CDC42</i>and<i>LINC00339</i> via openalex
- Genome-wide association meta-analysis identifies new endometriosis risk loci via openalex
- Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis via openalex
- Histological classification of endometriosis as a predictor of response to treatment via openalex
- Identifying the Biological Basis of GWAS Hits for Endometriosis1 via openalex
- Multifocal endometriotic lesions associated with cancer are clonal and carry a high mutation burden via openalex
- Research Priorities for Endometriosis: Recommendations From a Global Consortium of Investigators in Endometriosis via openalex
- Shared genetics underlying epidemiological association between endometriosis and ovarian cancer via openalex
Cited by (17)
- Correlation between lipid metabolism and endometriosis: a meta-analysis 2025
- Endometriosis Quality of Life Cohort Study: Long-term Impact of Radical Laparoscopic Excision of Endometriosis 2025
- How to Categorise Disease? Endometriosis, Inflammation, and ‘Self Out of Place’ 2024
- Effects of dysregulated glucose metabolism on the occurrence and ART outcome of endometriosis 2023
- Effects of dysregulated glucose metabolism on the occurrence and ART outcome of endometriosis 2023
- Molecular analysis suggests oligoclonality and metastasis of endometriosis lesions across anatomically defined subtypes 2022
- Molecular analysis suggests oligoclonality and metastasis of endometriosis lesions across anatomically defined subtypes 2021
- Protocol for a case–control study investigating the clinical phenotypes and genetic regulation of endometriosis in Indian women: the ECGRI study 2021
- Induction of autophagy by Beclin-1 in granulosa cells contributes to follicular progesterone elevation in ovarian endometriosis 2020
- A relational database to identify differentially expressed genes in the endometrium and endometriosis lesions 2020
- Endometriosis and Pelvic MRI: The Impact of Radiologist Expertise on Detection 2020
- Concurrent Escherichia coli tubo-ovarian abscess and Campylobacter jejuni gastroenteritis: A case report 2020
- Is endometriosis metastasizing? Shared somatic alterations suggest common origins across endometriotic lesions 2020
- Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis? 2019
- Distinct developmental trajectories of endometriotic epithelium and stroma: implications for the origins of endometriosis 2018
- Clinical presentation and treatment of catameinal pneumothorax and endometriosis-related pneumothorax 2018
- Novel CTCF mutations in Chinese patients with ovarian endometriosis 2018
Source provenance
- europepmc
- last seen: 2026-06-04T01:30:01.192114+00:00
- openalex
- last seen: 2026-06-04T00:00:01.174412+00:00
- pubmed
- last seen: 2026-05-13T22:20:25.745717+00:00
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