On May 2, Strand Life Sciences – a precision medicine diagnostics provider –published a study on the utility of germline cancer multi-gene test for hereditary breast and ovarian cancer.
The study, which is 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,” was published in the Journal of Human Genetics.
Researchers tested 141 unrelated patients and families with breast or ovarian cancer for mutations in 13 genes associated with high inherited risk. The next-generation sequencing was used to run the tests (NGS).
According to the reports, the results show that 36.2 percent of the cases were in clear inherited risk, with the number going up to 52 percent for cases with a family history of breast cancer. These results turned out to be higher than what researchers were expecting. 28 percent of the mutations detected were in other genes and 37 percent of the mutations detected have not been reported earlier in patients.
The findings indicate that compared to previous approaches of testing single genes or just the BRCA1 and BRCA2 genes, Strand’s multi-gene germline cancer test provides increased diagnostic sensitivity, and possibly better patient outcomes.
Importance of the findings
These findings are a big improvement for patient care, mostly because breast and ovarian cancer patients with a strong inherited risk, and their related family, can now take steps for cancer prevention and increased surveillance. Thanks to the findings, the knowledge base of genetic variants in the Indian population has increased, Finlcialexpress.com reported.
“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 the clinical utility of NGS-based multi-gene panels for incorporation into routine genetic testing in clinical oncology practice,” Dr. Vijay Chandru, Executive Chairman, Strand Life Sciences, said.
She added that with the increased financial burden of cancer care on self-paying patients and the Indian healthcare system, their approach of using affordability as a driver of innovation turned out to developing cost-effective genetic testing solutions, for diagnosis and early detection of HBOC.
The study underscores the incidence of cancer risk mutations that are common in the Indian population. The Strand Germline Cancer Test offers the ability to identify patients who are likely responders, using certain types of therapies, such as the platinum-based therapies and PARP inhibitors, said Dr. Kas Subramanian, Chief Scientific Officer, Strand Life Sciences. Subramanian affirmed that can greatly benefit cancer patients and their family members.
Source: Journal of Human Genetics