Indian Scientists Identify Oral Cancer-Causing Gene Mutations in Women

Indian scientists have identified distinct genetic driver mutations responsible for oral cancer in women from southern India’s southern states, offering new hope for targeted therapies against a disease that disproportionately affects female tobacco chewers. A collaborative study led by Professor Tapas K. Kundu at the Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR), Bengaluru, along with researchers from the BRIC-National Institute of Biomedical Genomics (NIBMG), Kalyani, and clinicians from Sri Devaraj Urs Academy of Higher Education and Research (SDUAHER), Kolar, revealed that oral squamous cell carcinomas in women exhibit mutation profiles markedly different from those typically seen in men or in tobacco-smoking populations worldwide.

The research, described as India’s first large-scale female-centric genomic analysis of oral cancer, focused on patients with a history of chewing tobacco products such as gutkha, betel quid, and areca nut—habits far more prevalent among women in southern India than smoking. Whole-exome and targeted deep sequencing of tumor samples uncovered recurrent mutations in genes rarely highlighted in global oral-cancer databases, including several novel alterations in chromatin-modifying enzymes and DNA-damage response pathways that appear unique to this cohort.

These findings challenge the long-held assumption that oral cancer genetics is uniform across genders and risk factors. The study showed that women’s tumors displayed lower overall mutation burden but higher frequency of specific driver events in specific oncogenic pathways, potentially explaining both the aggressive progression observed in some cases and the relatively better response to certain existing therapies. The team also identified actionable mutations that could make a subset of patients eligible for precision medicines currently used in other cancers.

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Published as a preprint and under peer review in a leading oncology journal, the work is expected to influence future clinical trials by advocating gender- and habit-specific stratification. Researchers emphasised that the discovery paves the way for developing affordable diagnostic panels tailored to Indian women and exploring repurposed drugs that target the newly identified pathways, offering a crucial step toward reducing India’s high oral-cancer mortality rate among female patients

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