Somatic mutational landscape across Indian breast cancer cases by whole exome sequencing

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 o...

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Bibliographic Details
Published in:Scientific reports 2024-08, Vol.14 (1), p.18679-11, Article 18679
Main Authors: Kumar, Rahul, Awasthi, Supriya, Pradhan, Dibyabhaba, Kumar, Rakesh, Goel, Harsh, Singh, Jay, Haider, Imran, Deo, S. V. S., Kumar, Chitresh, Srivastava, Anurag, Bhatnagar, Amar, Lakshmi, S., Augustine, Paul, Ranjan, Amar, Chopra, Anita, Gogia, Ajay, Batra, Atul, Mathur, Sandeep, Rath, Goura Kishor, Kaur, Tanvir, Dhaliwal, R. S., Mathew, Aleyamma, Agrawal, Usha, Hussain, Showket, Tanwar, Pranay
Format: Article
Language:English
Subjects:
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692/308
692/4028
Adult
Aged
Biomarkers, Tumor - genetics
Breast cancer
Breast Neoplasms - genetics
DNA Mutational Analysis
Driver gene
Exome Sequencing
Female
Genomic analysis
Heterogeneity
Humanities and Social Sciences
Humans
India - epidemiology
Malignancy
Microtubules
Middle Aged
Minority & ethnic groups
multidisciplinary
Mutation
Oncogenic pathway
p53 Protein
SBS signature
Science
Science (multidisciplinary)
Whole genome sequencing
Whole-exome sequencing
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Summary: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.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-024-65148-4