New oral cancer driver gene discovered in women of southern India

Indian scientists have found a new oral cancer-causing driver gene, CASP8, in women patients from southern India. The female-centric study addresses the aggressive, life-threatening form of the disease linked to tobacco chewing habits.

Indian scientists have discovered oral cancer-causing driver gene mutations in women patients of southern India. India carries one of the world's heaviest burdens of oral cancer with alarmingly high rates witnessed among women in certain regions, especially in southern and northeast India, due to the widespread habit of chewing tobacco-infused betel quid, gutka, and related products. While the disease is widely studied in men, oral cancer in women has often remained under the radar.

A Female-Centric Study

A team of 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 Sri Devraj Urs Academy of Higher Education and Research (SDUAHER), Kolar, has conducted a female-centric study on oral cancer in India with a unique tobacco chewing habit. This study, led by Prof Tapas K Kundu, JNCASR, Bengaluru, aimed to understand what makes cancers in women unique, how the disease manifests and progresses in female patients and how we can treat them better.

Key Genetic Findings

This investigation, published in the Clinical and Translational Medicine Journal, was specifically designed to uncover the biological underpinnings of the disproportionately aggressive, highly recurrent, and life-threatening forms of oral cancer that affect Indian women. Using cutting-edge whole-exome sequencing, the researchers identified ten key genes with significant mutations in the female oral cancer cohort from Kolar, Karnataka (SDUAHER). Although two of the major genes, CASP8 and TP53, were found to be highly mutated in these patients, CASP8 appears to be the driver mutation (cancer-causing), which is quite different from previously studied mutations in oral cancer patients (largely men). Despite the limited cohort size (N=38), the findings suggest that co-occurring TP53 and CASP8 mutations confer a markedly aggressive and lethal phenotype in oral cancer. These observations warrant further investigation, and the team is now focused on delineating the molecular mechanisms underlying oncogenesis driven by this novel driver mutation in the context of TP53 alterations for the next phase of the research.

AI-Powered Tumour Analysis

The team also used artificial intelligence (deep learning) to digitally analyse tumour tissues. This revealed two distinct groups of female patients, each with a different immune response in their tumours. This insight is crucial because it suggests that some patients might respond better to certain treatments based on their tumour profile.

Implications for Personalised Medicine

This groundbreaking study sets a new benchmark in cancer research. It not only highlights the urgent need to include more women patients in biomedical research but also provides a roadmap for personalised medicine in tackling oral cancer--a disease that has claimed many lives in India. However, these findings need to be further confirmed in a larger number of patients.

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