Strand Life Sciences, a global leader in precision medicine diagnostics announced the publication of a landmark study in the Journal of Human Genetics in a paper titled, “Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.”
Breast and ovarian cancers are among the most frequently diagnosed forms of hereditary cancers, and leading cause of death in India. According to GLOBOCAN, 145,000 new cancer cases were diagnosed, and 70,000 deaths occurred in India in 20121. The burden of breast cancer on the Indian healthcare system has been steadily increasing, emphasizing the need for a cost-effective method for early detection of these cancers.
As part of this large study, 141 unrelated patients and families with breast or ovarian cancer were tested for mutations in 13 genes associated with high inherited risk, using Next-Generation Sequencing (NGS). 36.2% of the cases showed clear inherited risk, with the number going up to 52% for cases with a family history of breast cancer. Both numbers were higher than expected. Most were on account of mutations in the commonly tested BRCA1 and BRCA2 genes. However, 28% of the mutations detected were in other genes, indicating that Strand’s multi-gene germline cancer test provides increased diagnostic sensitivity, and possibly better patient outcomes, as compared to previous approaches of testing single genes or just the BRCA1 and BRCA2 genes. In addition, 37% of the mutations detected have not been reported earlier in patients, indicating novel variation in the Indian population. These trends continue to hold on more than 300 further cases tested after the study was submitted.
These findings are important for patient care, as breast and ovarian cancer patients with a strong inherited risk, and their related family, can take steps for cancer prevention and increased surveillance. Recent and upcoming promising developments in systemic therapy for such patients might also yield better outcomes2. These findings also help in growing the knowledge base of genetic variants in the Indian population.
Dr. Ramesh Sarin, MBBS, MS, FRCS, a leader in the field of genetic testing and a Senior Consultant – Surgical Oncology, Indraprastha Apollo Hospitals, New Delhi, said “Genetic testing using multi-gene panels will potentially be helpful in developing effective strategies for early detection, prevention, and better management of HBOC, which will have a positive impact on healthcare in India.”
Dr. Vijay Chandru, PhD, FASc, FNAE, Executive Chairman, Strand Life Sciences, said, “We are happy to announce the publication of our study on hereditary cancer risk in South Asian women in the Journal of Human Genetics. Studies such as these will provide physicians much needed evidence on clinical utility of NGS-based multi-gene panels for incorporation into routine genetic testing in clinical oncology practice.” Dr. Chandru added, “With the increased financial burden of cancer care on self-paying patients and the Indian healthcare system, our approach of using affordability as a driver of innovation has resulted in developing cost-effective genetic testing solutions, for diagnosis and early detection of Hereditary Breast and Ovarian Cancers (HBOC).”
Speaking about the study, Dr. Kas Subramanian, PhD, FNAE, Chief Scientific Officer, Strand Life Sciences, said “This study underscores the incidence of cancer risk mutations that are prevalent in the Indian population. In certain types of therapies, including platinum-based therapies and PARP inhibitors, where the genetic background plays an important role in treatment success, the Strand Germline Cancer Test offers the ability of identifying patients who are likely responders. More importantly, hereditary cancer genetic testing when performed in accordance with guideline-based ethical practices, coupled with expert genetic counseling consultations can greatly benefit cancer patients and their family members.”