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

期刊论文
出版模式：

开放获取
发表日期：

2024年8月12日

查看全文

Rahul Kumar,
Supriya Awasthi,
Dibyabhaba Pradhan,
Rakesh Kumar,
Harsh Goel,
Jay Singh,
Imran Haider,
S. V. S. Deo,
Chitresh Kumar,
Anurag Srivastava,
Amar Bhatnagar,
Rakesh Kumar,
S. Lakshmi,
Paul Augustine,
Amar Ranjan,
Anita Chopra,
Ajay Gogia,
Atul Batra,
Sandeep Mathur,
Goura Kishor Rath,
Tanvir Kaur,
R. S. Dhaliwal,
Aleyamma Mathew,
Usha Agrawal,
Showket Hussain,
Pranay Tanwar

摘要

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.