Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.
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ABSTRACT:
SUBMITTER: Minucci A
PROVIDER: S-EPMC5938031 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.
Minucci Angelo A Concolino Paola P De Bonis Maria M Costella Alessandra A Paris Ida I Scambia Giovanni G Capoluongo Ettore E
Human genome variation 20180420
Extensive molecular screening of the <i>BRCA1/2</i> (<i>BRCA)</i> 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 <i>BRCA1</i> synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the <i>BRCA1 c.5073</i> <i>A</i> > T variant might play a pathogenic role in HOC syndrome in this family. ...[more]
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