Somatic Mutational Landscape Across Indian Breast Cancer Cases by Whole Exome Sequencing

Overview

Journal Sci Rep

Specialty Science

Date 2024 Aug 12

PMID 39134585

Authors

Rahul Kumar

Supriya Awasthi

Dibyabhaba Pradhan

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

Affiliations

Soon will be listed here.

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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