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Int. J. Mol. Sci. 2013, 14(9), 18824-18849; doi:10.3390/ijms140918824
Review

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

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Received: 5 August 2013; in revised form: 26 August 2013 / Accepted: 27 August 2013 / Published: 12 September 2013
(This article belongs to the Special Issue Genes and Pathways in the Pathogenesis of Ovarian Cancer)
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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.
Keywords: endometriosis; ovarian clear cell carcinoma (OCCC); endometrioid ovarian carcinoma (EnOC); ARID1A; PI3K/AKT pathway; PIK3CA endometriosis; ovarian clear cell carcinoma (OCCC); endometrioid ovarian carcinoma (EnOC); ARID1A; PI3K/AKT pathway; PIK3CA
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Samartzis, E.P.; Noske, A.; Dedes, K.J.; Fink, D.; Imesch, P. ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas. Int. J. Mol. Sci. 2013, 14, 18824-18849.

AMA Style

Samartzis EP, Noske A, Dedes KJ, Fink D, Imesch P. ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas. International Journal of Molecular Sciences. 2013; 14(9):18824-18849.

Chicago/Turabian Style

Samartzis, Eleftherios P.; Noske, Aurelia; Dedes, Konstantin J.; Fink, Daniel; Imesch, Patrick. 2013. "ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas." Int. J. Mol. Sci. 14, no. 9: 18824-18849.


Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert