Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report

Autor:	Salim Moussa, Fatima Saleh, Said El Shamieh, Tarek Assi, Ahmad Othman, Fadi Farhat
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	ovarian cancer pik3r1 (l449s) mutation akt/mtor pathway next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Zdroj:	Case Reports in Oncology, Vol 13, Iss 1, Pp 188-192 (2020)
Druh dokumentu:	article
ISSN:	1662-6575
DOI:	10.1159/000505723
Popis:	Ovarian cancer (OC) is one of the most dangerous gynecological diseases and greatly increases the death risk worldwide. The heterogeneity of the ovarian tumors among patients and the lack of sufficient therapies for these tumors make the selection of the appropriate treatment a hard challenge. Understanding the mechanisms leading to OC becomes an urgent need in order to find out better therapeutic strategies. In this study, we have identified a point mutation (L449S) in the regulatory subunit of PI3K in an OC Lebanese patient. This genomic alteration had not been previously reported in OC and could plausibly enhance the PIK3CA amplification effect in strengthening AKT/mTOR pathway activity and leading to tumorigenesis.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/0514effbc0ed41de9e07d9744970b0c9 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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