Indian scientists discover oral cancer causing gene in women

Indian scientists have discovered oral cancer-causing driver gene mutations in women patients of southern India which sets a new benchmark in cancer research. The study 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.

India carries one of the world’s heaviest burdens of oral cancer with alarmingly high rates witnessed among women in certain regions 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 team of researchers from the Jawaharlal Nehru Centre for Advanced Scientific Research and the BRIC-National Institute of Biomedical Genomics, in collaboration with clinicians from Sri Devraj Urs Academy of Higher Education and Research, conducted the female-centric study on oral cancer in the country to understand what makes cancer in women unique, how the disease manifests, progresses in female patients and how to treat them in a better way.

The research, 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, according to information shared by the Ministry of Science and Technology.

Using cutting-edge sequencing, the researchers identified ten key genes with significant mutations in the female oral cancer cohort. Although two of the major genes, named CASP8 and TP53, were found to be highly mutated in these patients, CASP8 seemed to be the cancer-causing driver mutation. This is quite different compared to previously studied mutations in oral cancer patients who were largely male.

The findings suggest that co-occurring TP53 and CASP8 mutations confer a markedly aggressive and lethal phenotype in oral cancer, which warrant further investigation. The team is now focused on delineating the molecular mechanisms of onco-genesis driven by this novel driver mutation in the next phase of their research.

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