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

The detection of variants of uncertain significance (VUSs) in BRCA1/2 genes poses challenges in counseling and managing cancer patients. In this work, we have reviewed all BRCA1/2 VUSs detected in our clinical service in Bologna (Italy) over the past 11 years following recently developed classification guidelines, yielding a classification rate of 81.3%. This result demonstrates the effectiveness of the new guidelines and, above all, allows to give a clear and definitive result to the 197 patients carrying the classified variants, who will benefit from more accurate clinical management for themselves and for their family members. (By Dr. Giovanni Innella, https://jmg.bmj.com/content/early/2023/12/30/jmg-2023-109694 )

(Visited 90 times, 1 visits today)