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http://dx.doi.org/10.5808/GI.2018.16.4.e35

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

Yoon, Kyong-Ah (College of Veterinary Medicine, Konkuk University)
Woo, Sang Myung (Center for Liver Cancer, National Cancer Center)
Kim, Yun-Hee (Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy)
Kong, Sun-Young (Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy)
Han, Sung-Sik (Center for Liver Cancer, National Cancer Center)
Park, Sang-Jae (Center for Liver Cancer, National Cancer Center)
Lee, Woo Jin (Center for Liver Cancer, National Cancer Center)
Publication Information
Genomics & Informatics / v.16, no.4, 2018 , pp. 35.1-35.3 More about this Journal
Abstract
Biliary tract cancer (BTC) is a rare cancer and is associated with a poor prognosis. To understand the genetic characteristics of BTC, we analyzed whole-exome sequencing data and identified somatic mutations in patients with BTC. Tumors and matched blood or normal samples were obtained from seven patients with cholangiocarcinoma who underwent surgical resection. We discovered inactivating mutations of tumor suppressor genes, including APC, TP53, and ARID1A, in three patients. Activating mutations of KRAS and NRAS were also identified. Our analyses identified somatic mutations in Korean patients with BTC.
Keywords
biliary tract neoplasms; cholangiocarcinoma; somatic mutations; whole-exome sequencing;
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