{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T15:20:38Z","timestamp":1775316038908,"version":"3.50.1"},"reference-count":0,"publisher":"Biomedical Informatics","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bioinformation"],"published-print":{"date-parts":[[2026,3,31]]},"abstract":"<jats:p>Oral squamous cell carcinoma (OSCC) dominates oral malignancies in Eastern Uttar Pradesh, India, driven by high smokeless tobacco use and late-stage presentations causing substantial mortality. Hence, this case-control study integrated mitochondrial DNA (mtDNA) profiling and whole exome sequencing (WES) in 98 participants (47 OSCC cases, 51 matched controls) from this high-burden region. mtDNA analysis revealed significant depletion of the 16223C polymorphism in cases (53.2% vs 90.2% controls; \u03c7\u00b2=16.74, p=0.0001), indicating potential protective effects against OSCC development. WES identified case-enriched driver variants, including NOTCH1 p.R2156H (15.0% cases) and truncating FAT1 mutations (10.0% cases), highlighting key oncogenic pathways. These findings advance precision oncology by establishing population-specific genomic markers for risk-stratification and targeted prevention of tobacco-related OSCC in Northern India.<\/jats:p>","DOI":"10.6026\/973206300221433","type":"journal-article","created":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T14:31:48Z","timestamp":1775313108000},"page":"1433-1439","source":"Crossref","is-referenced-by-count":0,"title":["Population-specific genomic risk markers for oral and maxillofacial malignancies in a high tobacco-exposure cohort from Eastern Uttar Pradesh, India"],"prefix":"10.6026","volume":"22","author":[{"given":"Pavan Kumar","family":"Dubey","sequence":"first","affiliation":[{"name":"Department of Prosthodontics and Crown & Bridge, Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neelam","family":"Mittal","sequence":"additional","affiliation":[{"name":"Department of Conservative & Endodontics, Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gyaneshwar","family":"Chaubey","sequence":"additional","affiliation":[{"name":"Department of Conservative & Endodontics, Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naveen","family":"P.G","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics and Crown & Bridge, Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4070","published-online":{"date-parts":[[2026,3,31]]},"container-title":["Bioinformation"],"original-title":[],"deposited":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T14:31:49Z","timestamp":1775313109000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.bioinformation.net\/022\/973206300221433.htm"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,31]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,3,31]]},"published-print":{"date-parts":[[2026,3,31]]}},"URL":"https:\/\/doi.org\/10.6026\/973206300221433","relation":{},"ISSN":["0973-8894","0973-2063"],"issn-type":[{"value":"0973-8894","type":"print"},{"value":"0973-2063","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,31]]}}}