Case report of a rare variant of BRCA2 germline mutation in an ovarian cancer patient

We report a germline c.5141_5144delATTT mutation in BRCA2 gene, detected in a 49-year-old Indian woman with ovarian cancer. This deletion was also detected in her sister who is not affected by the disease at the moment. The mutation results in a premature stop at codon 1714 of BRCA2 protein and has not been documented from India in any published reports to the best of our knowledge.