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Cited by 171

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ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas

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Samartzis, Eleftherios, Noske, Aurelia, Dedes, Konstantin, Fink, Daniel, Imesch, Patrick·2013·International Journal of Molecular Sciences

Abstract

Endometriosis is a common gynecological disease affecting 6%–10% of women of reproductive age and is characterized by the presence of endometrial-like tissue in localizations outside of the uterine cavity as, e.g., endometriotic ovarian cysts. Mainly, two epithelial ovarian carcinoma subtypes, the ovarian clear cell carcinomas (OCCC) and the endometrioid ovarian carcinomas (EnOC), have been molecularly and epidemiologically linked to endometriosis. Mutations in the gene encoding the AT-rich interacting domain containing protein 1A (ARID1A) have been found to occur in high frequency in OCCC and EnOC. The majority of these mutations lead to a loss of expression of the ARID1A protein, which is a subunit of the SWI/SNF chromatin remodeling complex and considered as a bona fide tumor suppressor. ARID1A mutations frequently co-occur with mutations, leading to an activation of the phosphatidylinositol 3-kinase (PI3K)/AKT pathway, such as mutations in PIK3CA encoding the catalytic subunit, p110α, of PI3K. In combination with recent functional observations, these findings strongly suggest cooperating mechanisms between the two pathways. The occurrence of ARID1A mutations and alterations in the PI3K/AKT pathway in endometriosis and endometriosis-associated ovarian carcinomas, as well as the possible functional and clinical implications are discussed in this review.

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Metadata

Authors
Samartzis, E., Noske, A., Dedes, K., Fink, D., & Imesch, P.
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2013-09-12
Volume
14
Issue
9
Pages
18824-18849
ISSN
1422-0067 (ISSN-L)
OpenAlex
W2092324058
Cited by
171
References
14
FWCI
4.71
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas. https://app.cochat.ai/papers/10.3390/ijms140918824
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Samartzis, E., Noske, A., Dedes, K., Fink, D., & Imesch, P. (2013). ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas. International Journal of Molecular Sciences. https://doi.org/10.3390/ijms140918824

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