%0 Journal Article
%T Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0003-0
%X Extensive molecular screening of the BRCA1/2 (BRCA) 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 BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073£¿A£¿>£¿T variant might play a pathogenic role in HOC syndrome in this family
%U https://www.nature.com/articles/s41439-018-0003-0