Bioinformatic assessment of the relationship between breast cancer and autophagy-related protein Ambra1 mutation

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dc.contributor.authorKarabay, Umut
dc.contributor.authorAyan, Durmus
dc.date.accessioned2024-11-07T10:40:17Z
dc.date.available2024-11-07T10:40:17Z
dc.date.issued2024
dc.departmentNiğde Ömer Halisdemir Üniversitesi
dc.description.abstractObjectives: Autophagy protein 1, regulated by Beclin 1 (Ambra1), promotes tumor formation and development by modulating autophagy. Therefore, in situ intervention in autophagy is a promising new strategy for tumor therapy. We aimed to evaluate the possible effects of changes in the Ambra1 gene on breast cancer (BC) treatment in the BRCA cohort. Methods: The gene profile of a total of 996 patients with BC was examined using data obtained from the Cancer Genome Atlas database via cBioPortal. The effects of mutations on proteins were examined by scoring the Polymor-phism Phenotyping v2, Mutation Assessor, and Sorting Intolerant from Tolerant databases. The association of genes with other genes was determined with the STRING database. Kaplan-Meier Plot database was used by evaluating the overall survival (OS). The promoter methylation was evaluated by the UALCAN database. Results: Eleven mutations were detected. Four of these mutations were truncated proteins. Ambra1 tissue expression levels were upregulated compared to healthy tissue in the BRCA cohort; this was not statistically significant (p>0.05). Decreased Ambra1 expression levels were associated with a shorter OS (p=0.038). Ambra1 promoter region hyperme-thylation was significant in the BRCA cohort compared to healthy tissue (p<0.001). Conclusion: To our best knowledge, our study is the first to examine the relationship between BC and Ambra1 using bioinformatic tools. Ambra1 may be a candidate target molecule within the treatment strategy due to the mutations evaluated in the BRCA cohort, hypermethylation status, and the association of Ambra1 with shorter OS. However, these situations need to be confirmed by further studies. © 2024, Kare Publishing. All rights reserved.
dc.identifier.doi10.14744/IJMB.2024.59244
dc.identifier.endpage59
dc.identifier.issn2587-2362
dc.identifier.issue2
dc.identifier.scopus2-s2.0-85193461059
dc.identifier.scopusqualityN/A
dc.identifier.startpage51
dc.identifier.urihttps://doi.org/10.14744/IJMB.2024.59244
dc.identifier.urihttps://hdl.handle.net/11480/11535
dc.identifier.volume7
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherKare Publishing
dc.relation.ispartofInternational Journal of Medical Biochemistry
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241106
dc.subjectApoptosis
dc.subjectautophagy
dc.subjectbreast cancer
dc.subjectbreast medicine
dc.subjectgenetics-cancer genetics
dc.subjectgenetics-carcinogenesis
dc.titleBioinformatic assessment of the relationship between breast cancer and autophagy-related protein Ambra1 mutation
dc.typeArticle

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