Oncogenes As Diagnostic Biomarkers in Breast Cancer: A Review of Molecular Detection and Clinical Utility



Aa Esmaeilzadeh Amir ABBAS ; D Azizikhezri DORSA ; Z Fatahi ZAHRA ; H Saeidi HAMED ; M Fazel MOHAMMADTAGHI ; F Nasirzadeh FATEME
Source: Iranian Journal of Blood and Cancer Published:2025

Abstract

Breast cancer management has been revolutionized by the identification of key oncogenes which serve as critical diagnostic and prognostic biomarkers. These molecular alterations influence tumor behavior, treatment response, and patient outcomes, enabling personalized therapeutic strategies. This review comprehensively examined the most prominent oncogenes—HER2, PIK3CA, MYC, and BRCA1/2—implicated in breast carcinogenesis, the technologies used for their detection, and their implications for precision oncology. HER2 amplification, found in 15-20% of breast cancers, is associated with aggressive disease but responds well to targeted therapies like trastuzumab. While IHC and FISH remain standard detection methods, emerging technologies such as NGS improve sensitivity. PIK3CA mutations, common in HR+ tumors, drive therapy resistance but can be targeted with PI3K inhibitors, though clinical responses vary. The MYC oncogene promotes tumor proliferation and poor prognosis, but its therapeutic targeting remains challenging due to its complex role. BRCA1/2 mutations significantly increase hereditary breast cancer risk, particularly in TNBC and HR+ subtypes. PARP inhibitors have shown remarkable efficacy in BRCAmutated cancers, highlighting the importance of genetic testing. Despite these advances, challenges such as tumor heterogeneity, assay standardization, and biomarker validation persist. Future directions include multi-omics integration, liquid biopsy development, and AI-driven diagnostics to refine precision oncology approaches. © 2025 Elsevier B.V., All rights reserved.