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Updated: Feb 10, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Angelo Minucci1, Paola Concolino1, Maria De Bonis1
1Polo Scienze per Immagini, di Laboratorio e Infettivologiche, Teaching and Research Hospital "Agostino Gemelli" Foundation, Rome, Italy.
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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