Genomic Profiling and Precision Medicine in Breast Cancer: Diagnostic and Therapeutic Advances

Abstract

Background: Breast cancer is among the most common types of cancer globally and has remained one of the leading causes of illness and death. Genomics and molecular biology have revolutionized its treatment through personalized diagnosis and treatment options. Objective: This review highlights the importance of genomics in the diagnosis of breast cancer, its molecular profiling, risk stratification, and targeted therapy, with emphasis on recent advances in precision oncology. Methods: Literature was searched in PubMed, Scopus, Web of Science, and Google Scholar for publications between the year 2000 and 2026 on genomics profiling and precision medicine in breast cancer using the English language. Original studies, reviews, meta-analyses, guidelines, and consensus statements were selected while editorials, letters, meeting abstracts, and duplicate papers were excluded. Results: The total number of articles ranging from 2000 to 2026 was 102. Genomic profiling revealed major mutations such as BRCA1/2, HER2, TP53, PIK3CA, and ESR1 that play a role in diagnosis, prognosis, and therapeutic decision-making. Molecular stratification into four molecular subtypes (luminal A, luminal B, HER2-enriched, and triple negative) allowed individualized treatment options. HER2 amplification is seen in 15-20%, while the liquid biopsy showed 87% sensitivity in mutation detection. Conclusion: From sources like PubMed, Scopus, Web of Science, and Google Scholar, there is sufficient evidence that precision medicine has contributed immensely to the diagnosis and treatment of breast cancer by means of genomics and molecular biomarkers among other methods. Further research and innovation will play an important role in ensuring future success.