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 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.
Authors
- Amar Bhatnagar
- Harsh Goel (ORCID: https://orcid.org/0000-0003-3904-7343)
- Tanvir Kaur (ORCID: https://orcid.org/0000-0002-4270-137X)
- Anita Chopra (ORCID: https://orcid.org/0000-0002-0238-8702)
- Sandeep Mathur (ORCID: https://orcid.org/0000-0002-6729-6833)
- Ajay Gogia (ORCID: https://orcid.org/0000-0001-6500-1061)
- Supriya Awasthi
- Pranay Tanwar
- S. V. S. Deo (ORCID: https://orcid.org/0000-0003-1955-8234)
- Usha Agrawal (ORCID: https://orcid.org/0000-0001-7539-4102)
- Imran Haider (ORCID: https://orcid.org/0000-0002-0100-2513)
- Dibyabhaba Pradhan (ORCID: https://orcid.org/0000-0002-2459-5032)
- Rakesh Kumar (ORCID: https://orcid.org/0000-0002-0741-3663)
- Showket Hussain (ORCID: https://orcid.org/0000-0003-1456-9217)
- Aleyamma Mathew (ORCID: https://orcid.org/0000-0002-1574-7356)
- Atul Batra (ORCID: https://orcid.org/0000-0002-1934-8408)
- Paul Augustine (ORCID: https://orcid.org/0000-0003-1725-8350)
- Rahul Kumar (ORCID: https://orcid.org/0000-0001-6585-6780)
- Anurag Srivastava (ORCID: https://orcid.org/0000-0001-5855-8865)
- Chitresh Kumar (ORCID: https://orcid.org/0000-0001-9433-9336)
- Jay Singh (ORCID: https://orcid.org/0000-0003-4896-977X)
- Amar Ranjan
- R. S. Dhaliwal
- S. Lakshmi
- Goura Kishor Rath
Institutions
- All India Institute of Medical Sciences Raipur (IN)
- Vardhman Mahavir Medical College & Safdarjung Hospital (IN)
- Regional Cancer Center, Thiruvananthapuram (IN)
- Indian Council of Medical Research (IN)
- National Institute of Pathology (IN)
- All India Institute of Medical Sciences Bhopal (IN)
- National Institute of Cancer Prevention and Research (IN)
- DR. B.R.A. Institute Rotary Cancer Hospital (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Scientific Reports
- Published
- 2024-08-12
- DOI
- https://doi.org/10.1038/s41598-024-65148-4
- Citations
- 6
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 1.71
Funders
- Indian Council of Medical Research
- All-India Institute of Medical Sciences