Artificial intelligence in cancer genomics: refining diagnosis of hereditary breast and ovarian cancer syndromes.
Muhammad Khizar, Muhammad Zaib, Meerab Babar, Hasiba Karimi, Hasibullah Aminpoor
Abstract
Open AccessThe integration of artificial intelligence (AI) into soft tissue sarcoma (STS) diagnostics represents a significant leap toward precision oncology. AI-driven genomic tools, especially in the detection of fusion genes, enhance diagnostic sensitivity, speed, and accuracy, facilitating improved patient stratification and personalized therapy. The convergence of AI with multi-omic data - including transcriptomic, epigenomic, and imaging datasets - offers a comprehensive view of sarcoma biology and supports earlier detection and optimized treatment selection. However, effective implementation requires international collaboration, standardized reporting frameworks, and continuous clinician education. AI holds transformative potential to advance the precision, efficiency, and clinical impact of STS management.