Identification of somatic mutational landscape across Indian breast cancer cases by whole exome sequencing.-Reference-Cited by-同舟云学术

Identification of somatic mutational landscape across Indian breast cancer cases by whole exome sequencing.

Published:2023-11-09 Issue: Volume: Page:
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Author:

Tanwar Pranay¹,Kumar Rahul¹,Awasthi Supriya¹,Pradhan Dibyabhaba²,Kumar Rakesh¹,Goel Harsh¹,Singh Jay¹,Haider Imran¹,Agrawal Usha³,Deo SVS¹,Kumar Chitresh⁴,Srivast Anurag⁵,Bhatnagar Amar⁶,Kumar Rakesh⁶,Mathew Aleyamma⁷,S Lakshmi⁸,Augustine Paul⁹,Gogia Ajay¹,Mathur Sandeep¹⁰,Ranjan Amar¹,Chopra Anita¹,Gandhi Tanvir¹¹,Rath Goura Kishor¹,Hussain Showket¹²,Batra Atul¹

Affiliation:

1. Dr. B. R. A.-Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi, India

2. Centralized Core Research Facility, AIIMS, New Delhi, India

3. ICMR-National Institute of Pathology, New Delhi, India

4. Department of Surgical Oncology, All India Institute of Medical Sciences, Bilaspur, India

5. Department of General Surgery, All India Institute of Medical Sciences, New Delhi, India

6. Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India

7. Division of Cancer Epidemiology & Bio-statistics, Regional Cancer Centre, Thiruvananthapuram, Kerala, India

8. Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, Kerala, India

9. Division of Surgical Services, Regional Cancer Centre, Thiruvananthapuram, Kerala, India

10. Department of Pathology, All India Institute of Medical Sciences, New Delhi, India

11. Division of Non Communicable Diseases, Indian Council of Medical Research, New Delhi, India

12. Division of Molecular Oncology, National Institute of Cancer Prevention and Research, Noida, India

Abstract

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 (WES). 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.

Publisher

Research Square Platform LLC

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