Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan

Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan

Abstract Herein, we reported mutations in five DNA Damage Repair (DDR) i.e., TP53 , ATR , ATM, CHEK1 and CHEK2 involved in OSCC using NG-WES and their analysis using bioinformatics tools. Out of 42 identified mutations, 16.7% are reported for the 1st time. A total of 28 nonsynonymous SNVs are identi...

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Main Authors: Wafa Naeem, Fouzia Nawab, Muhammad Tahir Sarwar, Ali Talha Khalil, Dalia Ali Gaber, Hilal Ahmad, Muhammad Fazeel, Mohammed Alorini, Ishtiaq Ahmad Khan, Muhammad Irfan, Muslim Khan, Syed Ali Khurram, Asif Ali
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Scientific Reports
Subjects:
Oral cancer
Oncogenomics
NGS
Biomarker
Bioinformatics
Pashtun
Online Access:https://doi.org/10.1038/s41598-025-91700-x
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https://doi.org/10.1038/s41598-025-91700-x

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