Indian scientists have uncovered critical genetic mutations driving oral cancer in women, shedding light on a disease that has long been under-researched in female patients. Oral cancer remains a significant public health challenge in India, with particularly high rates among women in southern and northeastern regions. The prevalence is largely attributed to the widespread practice of chewing tobacco-infused betel quid, gutka, and related products.
While oral cancer has been extensively studied in men, its manifestation in women has often remained overlooked. Addressing this gap, researchers from the Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR), Bengaluru, and the BRIC-National Institute of Biomedical Genomics (NIBMG), Kalyani, in collaboration with clinicians from Devraj Urs Academy of Higher Education and Research (SDUAHER), Kolar, conducted a pioneering female-centric study.
Led by Prof. Tapas K Kundu (JNCASR), the study aimed to understand how oral cancer manifests and progresses in women and to identify potential avenues for improved treatment.
Using whole-exome sequencing and copy-number array profiling on paired tumor and blood samples from female patients with a unique regional tobacco-chewing habit (Kaddipudi) in Kolar, Karnataka, the team identified ten key genes with significant mutations. Among them, CASP8 emerged as a novel driver mutation, distinct from the mutations predominantly observed in male patients. The study also confirmed co-occurring TP53 and CASP8 mutations, which appear to contribute to a more aggressive and lethal cancer phenotype.
The research further employed artificial intelligence and deep learning to digitally analyze tumor tissues, revealing two distinct groups of female patients based on their immune responses. This finding suggests that treatment strategies could be personalized depending on the tumor’s molecular and immunological profile.
Published in the Clinical and Translational Medicine Journal, this groundbreaking study emphasizes the urgent need to include more female patients in biomedical research. It lays the foundation for personalized medicine approaches in oral cancer care and could significantly improve outcomes for women in India. However, researchers caution that these results need validation in larger patient cohorts to confirm the findings.
