Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer

胆道癌患者全外显子组测序体细胞突变分析

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作者:Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Sung-Sik Han, Sang-Jae Park, Woo Jin Lee

Abstract

Biliary tract cancer (BTC) is one of the rare cancers and associated with poor prognosis. To understand genetic characteristics of BTC, we analyzed whole exome sequencing (WES) data and identified somatic mutations in the patients with BTC. Tumors and matched blood or normal samples were obtained from seven patients with cholangiocarcinoma who were underwent surgical resection. We discovered inactivating mutations of tumor suppressor genes including APC, TP53, and ARID1A genes in three patients. Activating mutations of KRAS and NRAS were also identified. Our analyses identified somatic mutations of Korean patients with BTC.

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