Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report.
AKT/mTOR pathway
Next-generation sequencing
Ovarian cancer
PIK3R1 (L449S) mutation
Journal
Case reports in oncology
ISSN: 1662-6575
Titre abrégé: Case Rep Oncol
Pays: Switzerland
ID NLM: 101517601
Informations de publication
Date de publication:
Historique:
received:
31
12
2019
accepted:
02
01
2020
entrez:
2
4
2020
pubmed:
2
4
2020
medline:
2
4
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32231543
doi: 10.1159/000505723
pii: cro-0013-0188
pmc: PMC7098360
doi:
Types de publication
Case Reports
Langues
eng
Pagination
188-192Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or a financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. No writing assistance was utilized in the production of the manuscript.
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