Article
Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.
The Journal of clinical endocrinology and metabolism - 1 Feb 2015
Yu Willie, McPherson John R, Stevenson Mark, van Eijk Ronald, Heng Hong Lee, Newey Paul, Gan Anna, Ruano Dina, Huang Dachuan, Poon Song Ling, Ong Choon Kiat, van Wezel Tom, Cavaco Branca, Rozen Steven G, Tan Patrick, Teh Bin T, Thakker Rajesh V, Morreau Hans
Abstract excerpt
CONTEXT: Cell division cycle 73 (CDC73), encoding the protein parafibromin, is the most prevalent mutated gene in familial and sporadic parathyroid carcinoma (PC). OBJECTIVE: To identify additional genetic abnormalities in PCs. DESIGN: Whole-exome sequencing was performed using DNA from seven pairs of matched PCs and one triplet containing double primary tumor and normal leukocyte. Somatic variants were confirmed...
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