Article
Genomic profiling reveals mutational landscape in parathyroid carcinomas.
JCI insight - 23 Mar 2017
Pandya Chetanya, Uzilov Andrew V, Bellizzi Justin, Lau Chun Yee, Moe Aye S, Strahl Maya, Hamou Wissam, Newman Leah C, Fink Marc Y, Antipin Yevgeniy, Yu Willie, Stevenson Mark, Cavaco Branca M, Teh Bin T, Thakker Rajesh V, Morreau Hans, Schadt Eric E, Sebra Robert, Li Shuyu D, Arnold Andrew, Chen Rong
Abstract excerpt
Parathyroid carcinoma (PC) is an extremely rare malignancy lacking effective therapeutic intervention. We generated and analyzed whole-exome sequencing data from 17 patients to identify somatic and germline genetic alterations. A panel of selected genes was sequenced in a 7-tumor expansion cohort. We show that 47% (8 of 17) of the tumors harbor somatic mutations in the CDC73 tumor suppressor, with germline...
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