Exploring Molecular Diagnostic Innovations in Breast Cancer: A Systematic Review of Multi-Gene Assays

Breast cancer continues to be the most prevalent type of cancer affecting women worldwide. Therefore, early detection plays a pivotal role in enhancing survival rates. Recent advancements in genomic profiling techniques have significantly revolutionized the capacity to detect breast cancer at its earlier stages by facilitating the identification of key genetic mutations and alterations linked to tumorigenesis. The objective was to analyze the existing evidence on multi-gene assays obtained for early diagnosis of breast cancer in personalized therapeutic strategies. Methods: The following systematic review involved an extensive search of current literature in PubMed up to September ۲۰۲۴. Specific keywords and their associated PubMed MeSH terms, such as 'Breast Neoplasms,' 'Early Diagnosis,' 'Biomarkers,' and 'Precision Medicine,' were used to comprehensively explore the literature. The primary focus was to underscore the significance of genomic assays in advanced diagnostic methods for early breast cancer detection. Results: This review underscores the significance of various genomic biomarkers and multi-gene assays, such as Oncotype DX, MammaPrint, Mammostrat, Prosigna, EndoPredict, and others, in the assessment of risks and prognostication, thereby informing personalized treatment approaches. It is noteworthy that mutations in key genomic markers such as the BRCA۱ and BRCA۲ genes, as well as alterations in genes like HER۲, TP۵۳, and PIK۳CA, have been identified as playing an important role in the susceptibility and progression of breast cancer. Through the integration of insights from genomic assays, healthcare providers can gain a comprehensive understanding of the molecular underpinnings of breast cancer. This knowledge can facilitate earlier intervention and the implementation of individualized therapeutic approaches. Conclusion: The emergence of genomic profiling and the utilization of multi-gene assays have significantly influenced the approach to managing early-stage breast cancer. These molecular techniques offer the potential to anticipate metastasis before clinical manifestations, highlighting their value in early detection and intervention. Incorporating these profiling techniques into standard clinical practice enables more precise early detection, customized treatment selections, and enhanced patient outcomes. With ongoing technological progress, further optimization of these tools will increase their applicability in breast cancer care.

کلیدواژه ها:

breast cancer ، breast neoplasm ، early detection ، molecular diagnosis ، multi-gene assay