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- 2018
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndromeDOI: https://doi.org/10.1038/s41439-018-0003-0 Abstract: 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
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