Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer

Abstract Breast cancer (BC) is a multifaceted disease distinguished by a range of molecular subtypes and varying clinical prognoses. The involvement of DNA methylation in the dysregulation of gene expression has been linked to the development and progression of BC. Therefore, this study aimed to inv...

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Main Authors: Mansour Alsaleem, Samar Sindi, Safiah Alhazmi, Sabah Hassan, Magdah Ganash, Najla Alburae, Shadi Alkhayyat, Ayman Linjawi, Aisha Elaimi, Saif A. Alharthy, Khloud Algothmi, Reem Farsi, Ghadeer Alrefaei, Nouf Alsubhi, Norah Hamdi, Heba Alkhatabi
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Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-90001-7
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author Mansour Alsaleem
Samar Sindi
Safiah Alhazmi
Sabah Hassan
Magdah Ganash
Najla Alburae
Shadi Alkhayyat
Ayman Linjawi
Aisha Elaimi
Saif A. Alharthy
Khloud Algothmi
Reem Farsi
Ghadeer Alrefaei
Nouf Alsubhi
Norah Hamdi
Heba Alkhatabi
author_facet Mansour Alsaleem
Samar Sindi
Safiah Alhazmi
Sabah Hassan
Magdah Ganash
Najla Alburae
Shadi Alkhayyat
Ayman Linjawi
Aisha Elaimi
Saif A. Alharthy
Khloud Algothmi
Reem Farsi
Ghadeer Alrefaei
Nouf Alsubhi
Norah Hamdi
Heba Alkhatabi
author_sort Mansour Alsaleem
collection DOAJ
description Abstract Breast cancer (BC) is a multifaceted disease distinguished by a range of molecular subtypes and varying clinical prognoses. The involvement of DNA methylation in the dysregulation of gene expression has been linked to the development and progression of BC. Therefore, this study aimed to investigate the association between ANGPT1 gene expression and DNA methylation in BC patients. Eight Saudi female blood samples were used to undergo for whole genome bisulfite sequencing (WGBS) and RNA sequencing for the identification of novel DNA methylation targets. Several public domain BC datasets including the METABRIC cohort, TCGA, and Kaplan Meier Plotter datasets, were used to explore the prognostic significance of ANGPT1 gene. Then, the demethylation agent 5-aza-2’-deoxycytidine was used to examine the potential association between DNA methylation and ANGPT1 expression. Finally, the validation was conducted on blood samples from 49 Saudi females using methylight techniques. Our results shows that upregulation of ANGPT1 gene expression exhibited hypomethylation pattern in BC samples. these results were confirmed by MCF7 cell line experiments. Demethylating using 5-aza in MCF7 and MCF10A showed a high expression of ANGPT1 in both cell lines. ANGPT1 mRNA expression was found to poor prognostic biomarker and lower Breast Cancer-Specific Survival (BCSS) in BC patients. The potential importance of abnormal DNA methylation in the development and advancement of BC is significant. ANGPT1 may act as an oncogene and could be extensively studied further to behave as a predictive biomarker for breast cancer.
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spelling doaj-art-33fcb2934a3042fe94b79607df79de792025-08-20T02:16:48ZengNature PortfolioScientific Reports2045-23222025-02-0115111710.1038/s41598-025-90001-7Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancerMansour Alsaleem0Samar Sindi1Safiah Alhazmi2Sabah Hassan3Magdah Ganash4Najla Alburae5Shadi Alkhayyat6Ayman Linjawi7Aisha Elaimi8Saif A. Alharthy9Khloud Algothmi10Reem Farsi11Ghadeer Alrefaei12Nouf Alsubhi13Norah Hamdi14Heba Alkhatabi15Unit of Scientific Research, Applied College, Qassim UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Internal Medicine, Faculty of Medicine, King Abdulaziz UniversityMedical Reference ClinicsDepartment of Medical Laboratory Science, Faculty of Applied Medical Science, King Abdulaziz UniversityDepartment of Medical Laboratory Science, Faculty of Applied Medical Science, King Abdulaziz UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Biological Sciences, Faculty of Science, King Abdulaziz UniversityDepartment of Biology, University of JeddahBiological Sciences Department, College of Science & Arts, King Abdulaziz UniversityDepartment of Biology, King Khalid UniversityDepartment of Medical Laboratory Science, Faculty of Applied Medical Science, King Abdulaziz UniversityAbstract Breast cancer (BC) is a multifaceted disease distinguished by a range of molecular subtypes and varying clinical prognoses. The involvement of DNA methylation in the dysregulation of gene expression has been linked to the development and progression of BC. Therefore, this study aimed to investigate the association between ANGPT1 gene expression and DNA methylation in BC patients. Eight Saudi female blood samples were used to undergo for whole genome bisulfite sequencing (WGBS) and RNA sequencing for the identification of novel DNA methylation targets. Several public domain BC datasets including the METABRIC cohort, TCGA, and Kaplan Meier Plotter datasets, were used to explore the prognostic significance of ANGPT1 gene. Then, the demethylation agent 5-aza-2’-deoxycytidine was used to examine the potential association between DNA methylation and ANGPT1 expression. Finally, the validation was conducted on blood samples from 49 Saudi females using methylight techniques. Our results shows that upregulation of ANGPT1 gene expression exhibited hypomethylation pattern in BC samples. these results were confirmed by MCF7 cell line experiments. Demethylating using 5-aza in MCF7 and MCF10A showed a high expression of ANGPT1 in both cell lines. ANGPT1 mRNA expression was found to poor prognostic biomarker and lower Breast Cancer-Specific Survival (BCSS) in BC patients. The potential importance of abnormal DNA methylation in the development and advancement of BC is significant. ANGPT1 may act as an oncogene and could be extensively studied further to behave as a predictive biomarker for breast cancer.https://doi.org/10.1038/s41598-025-90001-7Breast cancerDNA methylationBiomarkerANGPT15-aza-2'-deoxycytidine
spellingShingle Mansour Alsaleem
Samar Sindi
Safiah Alhazmi
Sabah Hassan
Magdah Ganash
Najla Alburae
Shadi Alkhayyat
Ayman Linjawi
Aisha Elaimi
Saif A. Alharthy
Khloud Algothmi
Reem Farsi
Ghadeer Alrefaei
Nouf Alsubhi
Norah Hamdi
Heba Alkhatabi
Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer
Scientific Reports
Breast cancer
DNA methylation
Biomarker
ANGPT1
5-aza-2'-deoxycytidine
title Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer
title_full Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer
title_fullStr Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer
title_full_unstemmed Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer
title_short Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer
title_sort deciphering the prognostic impact of aberrant dna methylation on angpt1 gene in breast cancer
topic Breast cancer
DNA methylation
Biomarker
ANGPT1
5-aza-2'-deoxycytidine
url https://doi.org/10.1038/s41598-025-90001-7
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