Article
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
eLife - 10 Jan 2022
Kimura Hirokazu, Paranal Raymond M, Nanda Neha, Wood Laura D, Eshleman James R, Hruban Ralph H, Goggins Michael G, Klein Alison P, Roberts Nicholas J
Abstract excerpt
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 uncertainty for patients and their family members as an unknown fraction are functionally deleterious, and therefore, likely pathogenic. Functional characterization of CDKN2A...
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