Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

6 Mar 2025

Abstract excerpt

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 ,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer-related Molecular Pathways
Share to DNA Repair Mechanisms
Share to PARP inhibition in cancer therapy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40050371
DOI: 10.1038/s41598-025-91700-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from PakistanPMID 40050371Read ↗

In silico assessment of DNA damage response gene variants associated with head and neck cancer.Semantic proximity Read ↗

Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer.Semantic proximity Read ↗

Impact of gene polymorphisms on toxicity and response rate in head and neck squamous cell carcinoma: a literature reviewSemantic proximity Read ↗

Identification of novel genetic variants associated with oral squamous cell carcinoma (OSCC) in South-West coast of India using targeted exome sequencing.Semantic proximity Read ↗

Somatic mutation analyses of stem-like cells in gingivobuccal oral squamous cell carcinoma reveals DNA damage response genes.Semantic proximity Read ↗

Relevance and actionable mutational spectrum in oral squamous cell carcinoma.Semantic proximity Read ↗

Whole exome sequencing identifies the potential role of genes involved in p53 pathway in Nasopharyngeal Carcinoma from Northeast India.Semantic proximity Read ↗

DNA Damage Response Gene Signature as Potential Treatment Markers for Oral Squamous Cell CarcinomaSemantic proximity Read ↗

Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia.Semantic proximity Read ↗

DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer PatientsSemantic proximity Read ↗

Exome Sequencing of Oral Squamous Cell Carcinoma Reveals Molecular Subgroups and Novel Therapeutic Opportunities.Semantic proximity Read ↗

DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer PatientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.