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 identified. TP53 harbored the highest number of mutations followed by ATM, ATR, CHEK1 and CHEK2. Nine mutations (TP53^p.R43H, TP53^p.L125Q, TP53^p.R116Q, TP53^p.C110Y, TP53^p.L62F, ATR^p.H120Y, ATM^p.P1054R, ATM^p.D1853V, ATM^p.T2934N) were predicted highly pathogenic. SAAFEQ-SEQ predicted destabilizing effects for all mutations, while ISPRED-SEQ identified 09 IS mutations, 07 on TP53, 01 in ATR and 01 in CHEK1 with no IS m

SUBMITTER: Naeem W 

PROVIDER: S-EPMC11885471 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature