Determination of the mutational landscape in Taiwanese patients with papillary thyroid cancer by whole-exome sequencing
Human Pathology May 27, 2018
Chang CC, et al. - Using whole-exome sequencing, researchers sought to determine mutations in a cohort of Taiwanese papillary thyroid cancer (PTC) patients. They used the Illumina system for sequencing and Sanger sequencing was used to validate all identified mutations. Novel somatic mutations in APC, DICER1, LRRC8D and NDRG1 were identified. Somatic mutations were also identified in ARID5A, CREB3L2, MDM4, PPP2R5A and TFPT. Mutations in these genes had been found previously in other tumors, but had not been described previously in PTC. Furthermore, aberrations in pathways that led to the distinct pathogeneses of BRAF-mutated PTC and wild-type BRAF PTC were also identified.
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