Publications by authors named "Darya S Prokofyeva"
Breast Cancer Res Treat
February 2020
Article Synopsis
- The study investigates genetic factors linked to hereditary breast cancer (BC) beyond the known predisposing genes, as these only account for less than half of the cases.
- Whole exome sequencing was conducted on 49 Russian patients with a clinical history of genetic BC to identify candidate mutations, leading to a list of 229 possible mutations, with further analysis suggesting 6 mutations may increase BC risk.
- The findings highlight a rare splicing variant in the USP39 gene as potentially significant for BC susceptibility, particularly associated with triple-negative breast tumors, prompting the need for additional research into these genetic variants.
