Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 .

Giovanni InnellaSimona FerrariSara MiccoliElena LuppiCristina Fortuno Michael T Parsons Amanda B Spurdle Daniela Turchetti

Published in: Journal of medical genetics (2023)

ACMG/AMP classification guidelines for VUS classification within a clinical cohort, and their important clinical impact. Furthermore, they suggested a cadence of no more than 3 years for regular review of VUSs, which however requires time, expertise and resources.

Keyphrases

deep learning
machine learning
protein kinase
clinical practice