Abstract
Endometrial cancer (EC) is one of the most common gynecologic malignancies. Emerging studies had demonstrated the mutations in genes could serve as diagnostic or prognostic markers for human cancers. In this study, we screened mutated genes in EC and found that the mutations in KIAA1109, CACNA1C, BSN, AKAP13, CELSR2, and HELZ2 were correlated to the overall survival time in patients with EC. Bioinformatics analysis showed KIAA1109 was involved in regulating NIK/NF-kappaB signaling, CACNA1C was found to regulate cell migration and proliferation, BSN was found to regulate Wnt signaling pathway, CELSR2 was involved in regulating cell–cell adhesion, nuclear import, and protein folding, HELZ2 was found to regulate multiple immune related biological processes, and AKAP13 was involved in regulating translation, mRNA nonsense-mediated decay, rRNA processing, translational initiation, and mRNA splicing via spliceosome. The findings provided a novel therapeutic strategy in patients with EC.
Highlights
Endometrial cancer (EC) is one of the most common gynecologic malignancies (Attarha et al, 2011)
We performed bioinformatics analysis to reveal the potential functions of KIAA1109, CACNA1C, BSN, AKAP13, CELSR2, and HELZ2 using their co-expressing mRNAs in EC patients
Our results showed TTN, MUC4, and PIK3CA were the most frequently mutated genes in the EC, which was consistent with previous studies
Summary
Endometrial cancer (EC) is one of the most common gynecologic malignancies (Attarha et al, 2011). Despite the prognosis of the early stage EC is good with a 5-year survival rate of 69–88% (Gottwald et al, 2010). The prognosis of metastatic EC remained very poor, with a median survival of 7–12 months. There is an urgent need to identify novel biomarkers for the prognosis of EC. With the development of next-generation sequencing, multiple EC related mutations were identified. McConechy et al identified a series of mutations in PTEN, CTNNB1, PIK3CA, ARID1A, ARID5B, and KRAS were associated with EC (Mcconechy et al, 2012). The mutations in FGFR2 were associated with poor outcomes in endometrioid endometrial cancer (Jeske et al, 2017). Jing et al found that MUC16 mutations could improve patients’ prognosis by enhancing the infiltration of cytotoxic T lymphocytes in the EC microenvironment (Jing and Jing, 2014)
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
