Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance

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 un...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Cancer Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8824478/
https://www.ncbi.nlm.nih.gov/pubmed/35001868
http://dx.doi.org/10.7554/eLife.71137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8824478/
https://www.ncbi.nlm.nih.gov/pubmed/35001868
http://dx.doi.org/10.7554/eLife.71137

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