Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.

Extensive molecular screening of the ( genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the   > T variant might play a pathogenic role in HOC syndrome in this family.