ArticleScientific reports2024
Somatic mutational landscape across Indian breast cancer cases by whole exome sequencing.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Circulating cell-free DNA as an integrative biomarker in breast cancer: correlation with molecular subtypes, mutation status, and treatment response.Frontiers in oncology · 2026Article
- Translating genomic insights into therapy: an NGS-based mutation profiling study in breast cancer.Medical oncology (Northwood, London, England) · 2025Article
- Network pharmacology and AI in cancer research uncovering biomarkers and therapeutic targets for RALGDS mutations.Scientific reports · 2025Article
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Authors and funding
26 authors.
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Abstract
Breast cancer (BC) has emerged as the most common malignancy among females. The genomic profile of BC is diverse in nature and complex due to heterogeneity among various geographically different ethnic groups. The primary objective of this study was to carry out a comprehensive mutational analysis of Indian BC cases by performing whole exome sequencing. The cohort included patients with a median age of 48 years. TTN, TP53, MUC16, SYNE1, and OBSCN were the frequently altered genes found in our cohort. The PIK3CA and KLC3 genes are driver genes implicated in various cellular functions and cargo transportation through microtubules, respectively. Except for CCDC168 and PIK3CA, several gene pairings were found to be significantly linked with co-occurrence. Irrespective of their hormonal receptor status, RTK/RAS was observed with frequently altered signaling pathways. Further analysis of the mutational signature revealed that SBS13, SBS6, and SBS29 were mainly observed in our cohort. This study supplements the discovery of diagnostic biomarkers and provides new therapeutic options for the improved management of BC.
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