Abstract

NEXT?GENERATION SEQUENCING (NGS) IN BREAST CANCER—CLINICAL UTILITY, BIOMARKERS, AND FUTURE DIRECTIONS

Wagh Vinay Suresh*, Nalawade Pratiksha Dajiba, Shingade Sachin Rajendra, Vaze Vedant Sharad, Prof. Jaydeep Pawar

ABSTRACT

Next‑generation sequencing (NGS) has transformed breast cancer (BC) diagnostics and therapeutics by enabling comprehensive genomic profiling from tissue and liquid biopsies. This review synthesises 2023–2025 evidence on the clinical use of targeted panels, whole‑exome/genome sequencing, and circulating tumour DNA (ctDNA) assays. We highlight biomarker‑driven therapies—including ESR1, PIK3CA/AKT1/PTEN, ERBB2 (HER2) alterations, BRCA1/2 and homologous recombination repair (HRR) genes—and summarize practice‑changing guidance from international societies. We also discuss assay selection, pre‑analytics, bioinformatics, reporting, and quality assurance, and outline future directions such as minimal residual disease (MRD) surveillance and integration with digital pathology/AI. RNA Analysis most commonly performed using RNA-Sequence is a technique that involve sequencing RNA to study the transcriptome. SNP Analysis means single nucleotide polymorphism analysis is the process of indentification and study of common variation in DNA at single nucleotide position. DNA Methylation analysis means study of how methyl group added to DNA, which can regulate gene expression without changing genetic code.

Keywords: Breast cancer, Next?generation sequencing, ctDNA, ESR1, PIK3CA, ERBB2, BRCA1/2, HER2?low, capivasertib, elacestrant, precision oncology.