Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer

Venhar Gurbuz Can

doi:10.31067/acusaglik.1866448

Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer

Abstract

Purpose: The objective of this study is to methodically examine the impact of combined molecular interactions between DNA repair genes (ARID1A, BRCA1, RAD51, SETD2) on tumour biology and survival in breast cancer across two independent large cohorts.Method: A comprehensive analysis of transcriptomic and clinical data from the TCGA-BRCA and METABRIC cohorts was conducted. The expressions of the genes BRCA1, RAD51, ARID1A, and SETD2 were classified into pairs based on the median, and combined gene groups were created using Gene_score. Survival analyses were performed using both the Kaplan–Meier and the Cox regression models. To evaluate the relationship between Gene Score and tumour stage, Spearman's rho correlation coefficient was used. Results: In single-gene analyses, low ARID1A expression was significantly associated with worse survival in both cohorts. The analysis revealed that the presence of either BRCA1 or RAD51 alone was not indicative of consistent or significant prognostic effects. In the TCGA cohort, gene groups were found to predict survival independently of tumour stage. In contrast, in the METABRIC cohort, the ARID1A effect was predominant. The investigation revealed no statistically significant correlation between the Gene_score and tumour stage in either cohort. This finding suggests that the genetic repair axis is independent of anatomical factors. Conclusion: This study, ARID1A-centered DNA repair dysfunction presents a unique axis that shapes tumor biology independently of classical clinical parameters, providing a robust biological basis for new prognostic and therapeutic approaches based on molecular classification. The cumulative disruption of the DNA repair–epigenetic pathway is a feature that is independent of anatomical stage and reflects biological aggressiveness in breast cancer.

Keywords

Supporting Institution

The project has not received financial support from any organisation.

Ethical Statement

The present study was conducted using publicly available datasets. Consequently, no further ethics committee approval is necessary.

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Details

Primary Language

English

Subjects

Biochemistry and Cell Biology (Other)

Journal Section

Research Article

Authors

Venhar Gurbuz Can ^*
0000-0002-9777-5173
Türkiye

Publication Date

March 24, 2026

Submission Date

January 18, 2026

Acceptance Date

March 10, 2026

Published in Issue

Year 2026 Volume: 17 Number: January, February, March 2026

DOI

https://doi.org/10.31067/acusaglik.1866448

IZ

https://izlik.org/JA54DG24YF

Cite

RIS / Bibtex

APA

Gurbuz Can, V. (2026). Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, 17(January, February, March 2026). https://doi.org/10.31067/acusaglik.1866448

AMA

1.Gurbuz Can V. Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer. Acibadem Univ Saglik Bilim Derg. 2026;17(January, February, March 2026). doi:10.31067/acusaglik.1866448

Chicago

Gurbuz Can, Venhar. 2026. “Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A As an Independent Prognostic Biomarker in Breast Cancer”. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 17 (January, February, March 2026). https://doi.org/10.31067/acusaglik.1866448.

EndNote

Gurbuz Can V (March 1, 2026) Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 17 January, February, March 2026

IEEE

[1]V. Gurbuz Can, “Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer”, Acibadem Univ Saglik Bilim Derg, vol. 17, no. January, February, March 2026, Mar. 2026, doi: 10.31067/acusaglik.1866448.

ISNAD

Gurbuz Can, Venhar. “Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A As an Independent Prognostic Biomarker in Breast Cancer”. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 17/January, February, March 2026 (March 1, 2026). https://doi.org/10.31067/acusaglik.1866448.

JAMA

1.Gurbuz Can V. Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer. Acibadem Univ Saglik Bilim Derg. 2026;17. doi:10.31067/acusaglik.1866448.

MLA

Gurbuz Can, Venhar. “Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A As an Independent Prognostic Biomarker in Breast Cancer”. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, vol. 17, no. January, February, March 2026, Mar. 2026, doi:10.31067/acusaglik.1866448.

Vancouver

1.Venhar Gurbuz Can. Epigenetic Dysregulation of DNA Damage Response Genes Identifies ARID1A as an Independent Prognostic Biomarker in Breast Cancer. Acibadem Univ Saglik Bilim Derg. 2026 Mar. 1;17(January, February, March 2026). doi:10.31067/acusaglik.1866448