A novel BRCA2 splice variant identified in a young woman.
Arianna NicolussiFrancesca BelardinilliLaura OttiniMarialaura PetroniCarlo CapalboGiuseppe GianniniAnna CoppaPublished in: Molecular genetics & genomic medicine (2020)
Combining different methodologies, we characterized this new BRCA2 variant and provided findings of clinical utility for its classification as pathogenic variant.