Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations. The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) classif...

Full description

Bibliographic Details
Main Authors: Anna Benet-Pagès, Andreas Laner, Luis R. Nassar, Tobias Wohlfrom, Verena Steinke-Lange, Maximilian Haeussler, Elke Holinski-Feder
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
BRCA1
BRCA2
ENIGMA
UCSC Genome Browser
VUS
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424011075

Internet

http://www.sciencedirect.com/science/article/pii/S2949774424011075

Similar Items