Advances in Breast Cancer Diagnostics: From Screening to Precision Medicine

Area of Science:

• Oncology and Radiology
• Genomics and Molecular Diagnostics

Background:

• Breast cancer is a leading global malignancy, necessitating advanced diagnostic approaches beyond traditional morphology.
• The past two decades have seen a shift towards molecularly informed, precision-guided breast cancer diagnosis and management.

Purpose of the Study:

• To synthesize current and emerging diagnostic modalities for breast cancer, from screening to molecular profiling.
• To examine the impact of integrative, multimodal diagnostic platforms on clinical decision-making in precision medicine.

Main Methods:

• Review of advances in breast cancer imaging technologies, including digital breast tomosynthesis (DBT), contrast-enhanced mammography (CEM), and abbreviated magnetic resonance imaging (MRI).
• Integration of artificial intelligence (AI) and radiomics in screening workflows for risk stratification.
• Analysis of molecular assays like multi-gene expression profiling (e.g., Oncotype DX) and next-generation sequencing (NGS) for prognostic classification and identification of actionable alterations.
• Evaluation of liquid biopsy markers such as circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) for monitoring treatment response and resistance.

Main Results:

• Imaging advances (DBT, CEM, abbreviated MRI) enhance diagnostic sensitivity and specificity.
• AI and radiomics show potential for improved risk stratification and reduced false positives in screening.
• Molecular assays refine prognostication and guide chemotherapy decisions in early-stage hormone receptor-positive breast cancer.
• Liquid biopsies offer minimally invasive monitoring of treatment efficacy and evolving resistance mechanisms.
• NGS identifies actionable genomic alterations (e.g., PIK3CA, HER2, BRCA1/2, NTRK) linked to targeted therapies.

Conclusions:

• Precision diagnostics, integrating imaging, AI, pathology, and liquid biopsy, are revolutionizing breast cancer care.
• Multimodal diagnostic platforms enable personalized treatment strategies, improving outcomes in the era of precision medicine.