We are pleased to announce that the results of our research in collaboration with the Dana-Farber Cancer Institute have been published in Nature Communications! In this publication, we focused on the application of microRNAs for the identification of BRCA1 and BRCA2 gene mutations without DNA sequencing. The developed test does not rely on direct verification of the presence of mutations but rather examines the consequences of their impact on the functioning of cellular processes associated with these proteins.

By utilizing 653 samples collected by six research groups from the United States, India, and Poland, along with advanced bioinformatic and biostatistical techniques, including machine learning-based approaches, we successfully defined a characteristic microRNA expression profile specific to BRCA1 or BRCA2 mutations. Our developed model achieved an accuracy of 94% in identifying individuals with BRCA1/2 mutations.

The project was funded by the Dana-Farber/Harvard Cancer Center Ovarian Cancer SPORE, the National Institutes of Health, the National Cancer Institute, the Massachusetts Life Sciences Center Bits to Bytes Program, the Deborah and Robert First Family Fund, the Honorable Tina Brozman Foundation, the V Foundation, the Mighty Moose Foundation, and the DST-UKERI (the Government of India Department of Science and Technology and the UK-India Education and Research Initiative).

You can read the article in open access here