Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach
Background: Cancer is a polygenic complex disorder involving a network of genes. The phosphatidylinositol 3-kinase (PIK3CA) has been reported as an oncogene that plays a role in many cancer types. The present study aims to demonstrate the association between the genetic alterations observed in the P...
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Shiraz University of Medical Sciences
2025-01-01
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| Series: | Middle East Journal of Cancer |
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| Online Access: | https://mejc.sums.ac.ir/article_50004_b77a637c803e29cef849a0c91e19d2a5.pdf |
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| author | Sivapriya Dayakar Anitha Pandi Chandra Pandi Paramasivam Arumugam Vijayashree Priyadharsini Jayaseelan |
| author_facet | Sivapriya Dayakar Anitha Pandi Chandra Pandi Paramasivam Arumugam Vijayashree Priyadharsini Jayaseelan |
| author_sort | Sivapriya Dayakar |
| collection | DOAJ |
| description | Background: Cancer is a polygenic complex disorder involving a network of genes. The phosphatidylinositol 3-kinase (PIK3CA) has been reported as an oncogene that plays a role in many cancer types. The present study aims to demonstrate the association between the genetic alterations observed in the PIK3CA gene network and its role in establishing breast cancer.Method: In the present observational study, we used multiple tools (STRING, cBioportal, PANTHER, and UALCAN) to demonstrate the genetic alterations in the Breast Cancer Dataset (TCGA, Firehose Legacy). The PIK3CA gene interaction network was deduced, followed by the identification of genetic alterations, gene ontology, gene expression and survival analysis.Results: The PIK3CA gene was found to harbor 36% of genetic alterations in the form of gene amplification and mutations. The gene expression profile indicated the significant downregulation of PIK3CA gene transcripts. Interestingly, the Kaplan Meier survival analysis demonstrated that low/medium expression of PIK3CA presented with a good prognosis when compared with the high expression group. These results support the fact that PIK3CA is oncogenic.Conclusion: The PIK3CA gene has been considered as one of the potential druggable targets for breast cancer. The genetic alterations reported in the gene might influence its function. Therefore, further experimental validation is required to provide more insight into the functional association of mutations. Also, the effect of tumor suppressors and epigenetic factors targeting PIK3CA has to be assessed to gain more insight into the increased expression of PIK3CA in breast cancer patients. |
| format | Article |
| id | doaj-art-756e044aaa1148d39ec296ebcd6d5ce0 |
| institution | Kabale University |
| issn | 2008-6709 2008-6687 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | Middle East Journal of Cancer |
| spelling | doaj-art-756e044aaa1148d39ec296ebcd6d5ce02025-01-13T05:34:02ZengShiraz University of Medical SciencesMiddle East Journal of Cancer2008-67092008-66872025-01-01161495810.30476/mejc.2024.100126.197250004Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational ApproachSivapriya Dayakar0Anitha Pandi1Chandra Pandi2Paramasivam Arumugam3Vijayashree Priyadharsini Jayaseelan4Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences [SIMATS], Saveetha University, Chennai, IndiaClinical Genetics Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences [SIMATS], Saveetha University, Chennai, IndiaMolecular Biology Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences [SIMATS], Saveetha Universi ty, Chennai, IndiaClinical Genetics Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences [SIMATS], Saveetha University, Chennai, IndiaClinical Genetics Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences [SIMATS], Saveetha University, Chennai, IndiaBackground: Cancer is a polygenic complex disorder involving a network of genes. The phosphatidylinositol 3-kinase (PIK3CA) has been reported as an oncogene that plays a role in many cancer types. The present study aims to demonstrate the association between the genetic alterations observed in the PIK3CA gene network and its role in establishing breast cancer.Method: In the present observational study, we used multiple tools (STRING, cBioportal, PANTHER, and UALCAN) to demonstrate the genetic alterations in the Breast Cancer Dataset (TCGA, Firehose Legacy). The PIK3CA gene interaction network was deduced, followed by the identification of genetic alterations, gene ontology, gene expression and survival analysis.Results: The PIK3CA gene was found to harbor 36% of genetic alterations in the form of gene amplification and mutations. The gene expression profile indicated the significant downregulation of PIK3CA gene transcripts. Interestingly, the Kaplan Meier survival analysis demonstrated that low/medium expression of PIK3CA presented with a good prognosis when compared with the high expression group. These results support the fact that PIK3CA is oncogenic.Conclusion: The PIK3CA gene has been considered as one of the potential druggable targets for breast cancer. The genetic alterations reported in the gene might influence its function. Therefore, further experimental validation is required to provide more insight into the functional association of mutations. Also, the effect of tumor suppressors and epigenetic factors targeting PIK3CA has to be assessed to gain more insight into the increased expression of PIK3CA in breast cancer patients.https://mejc.sums.ac.ir/article_50004_b77a637c803e29cef849a0c91e19d2a5.pdfbreast neoplasmscandidate genemutationgene ontology |
| spellingShingle | Sivapriya Dayakar Anitha Pandi Chandra Pandi Paramasivam Arumugam Vijayashree Priyadharsini Jayaseelan Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach Middle East Journal of Cancer breast neoplasms candidate gene mutation gene ontology |
| title | Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach |
| title_full | Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach |
| title_fullStr | Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach |
| title_full_unstemmed | Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach |
| title_short | Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach |
| title_sort | deciphering the genetic alterations in pik3ca gene interacting network and their putative association with breast cancer a computational approach |
| topic | breast neoplasms candidate gene mutation gene ontology |
| url | https://mejc.sums.ac.ir/article_50004_b77a637c803e29cef849a0c91e19d2a5.pdf |
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