Determination of the mutational landscape in Taiwanese patients with papillary thyroid cancer by whole-exome sequencing

Among women in Taiwan, thyroid cancer is the fifth most common malignant neoplasia. However, genomic profiling of papillary thyroid cancer (PTC) cases from Taiwan has not been attempted previously. We used whole-exome sequencing to identify mutations in a cohort of 19 PTC patients. Sequencing was performed using the Illumina system; Sanger sequencing was used to validate all identified mutations. We identified new somatic mutations in APC, DICER1, LRRC8D and NDRG1. We also found somatic mutations 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.

Source: Human Pathology - May 9, 2018 Category: Pathology Authors: Chun-Chi Chang, Ya-Sian Chang, Hsi-Yuan Huang, Kun-Tu Yeh, Ta-Chih Liu, Jan-Gowth Chang Tags: Original contribution Source Type: research