Oncogenic events associated with endometrial and ovarian cancers are rare in endometriosis

Anna L Vestergaard, Katrine Thorup, Ulla Breth Knudsen, Ulla B Knudsen, Torben Munk, Hanne Rosbach, Jesper B Poulsen, Per Guldberg, Pia M Martensen
Molecular human reproduction · 2011 · vol. 17(12) , pp. 758–761 · doi:10.1093/molehr/gar049 · PMID:21724579 · W2166598876
article OA: closed CC0 ⤵ 29 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study analyzed 15 genes for mutations and promoter hypermethylation in 23 endometriosis lesions and found only one KRAS oncogenic mutation, indicating that cancer-associated genetic events are rare in endometriosis.

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Abstract

Endometriosis displays some features that resemble malignant processes, including invasive growth, resistance to apoptosis and distant implantation. The objective of this study was to investigate whether gene alterations that are frequent in endometrial and/or ovarian cancers contribute to the pathogenesis of endometriosis. Biopsies were obtained from ectopic endometriosis lesions from 23 patients with revised American Fertility Score stage 1 (n= 1), 2 (n= 10), 3 (n= 11) or 4 (n= 1) endometriosis. Six genes (APC, CDKN2A, PYCARD, RARB, RASSF1 and ESR1) were analyzed for promoter hypermethylation using methylation-specific melting curve analysis, and 9 genes (BRAF, HRAS, NRAS, CTNNB1, CDK4, FGFR3, PIK3CA, TP53 and PTEN) were analyzed for mutations using denaturing gradient gel electrophoresis and direct sequencing. An oncogenic mutation in KRAS (c.34G > T; p.G12C) was detected in a single lesion. No gene alterations were found in the remaining samples. Our data suggest that genetic and epigenetic events contributing to endometrial and ovarian cancers are rare in endometriosis. However, other proto-oncogenes and tumor suppressor genes should be tested for alterations in order to identify the molecular basis of the susceptibility of endometriosis to malignant transformation.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Proto-Oncogene Proteins ras Proteins Adult DNA Methylation Electrophoresis, Polyacrylamide Gel Endometrial Neoplasms Endometrial Neoplasms Endometriosis Exons Female Humans Mutation Ovarian Neoplasms Ovarian Neoplasms Polymerase Chain Reaction Promoter Regions, Genetic Proto-Oncogene Proteins Proto-Oncogene Proteins p21(ras) ras Proteins

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References (19)

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