Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.71137
Abstract: Pathogenic germline CDKN2A variants are associated with an increased risk of pancreatic ductal adenocarcinoma (PDAC). CDKN2A variants of uncertain significance (VUSs) are reported in up to 4.3% of patients with PDAC and result in significant… read more here.
Keywords: vuss; cdkn2a vuss; functionally deleterious; variants uncertain ... See more keywords