Autor: Innella, G., Ferrari, S., Miccoli, S., Luppi, E., Fortuno, C., Parsons, M. T., Spurdle, A. B., Turchetti, D.
-
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
BackgroundBRCA1/2 testing is crucial to guide clinical decisions in patients with hereditary breast/ovarian cancer, but detection of variants of uncertain significance (VUSs) prevents proper management of carriers. The ENIGMA (Evidence-based Network fo…