Somatic TP53 variants frequently confound germ-line testing results.

Volume: 20, Issue: 8, Pages: 809 - 816
Published: Aug 1, 2018
Abstract
Blood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene panel testing are often discordant with Li-Fraumeni syndrome, raising concern about misinterpretation of acquired aberrant clonal expansions (ACEs) with TP53 variants as germ-line results. Pathogenic TP53 variants with abnormal next-generation sequencing metrics (e.g., decreased ratio (<25%) of...
Paper Details
Title
Somatic TP53 variants frequently confound germ-line testing results.
Published Date
Aug 1, 2018
Volume
20
Issue
8
Pages
809 - 816
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