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Genomics Inform > Volume 16(4); 2018 > Article
DOI: https://doi.org/10.5808/GI.2018.16.4.e35    Published online December 28, 2018.
Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
Kyong-Ah Yoon1, Sang Myung Woo2,3, Yun-Hee Kim3, Sun-Young Kong3,4, Sung-Sik Han2, Sang-Jae Park2, Woo Jin Lee2
1College of Veterinary Medicine, Konkuk University, Seoul 05029, Korea
2Center for Liver Cancer, Hospital, National Cancer Center, Goyang 10408, Korea
3Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy, Goyang 10408, Korea
4Center for Diagnostic Oncology, Hospital, National Cancer Center, Goyang 10408, Korea
Corresponding author:  Sang Myung Woo
Tel: +82-31-920-1733   Email: wsm@ncc.re.kr
Received: December 10, 2018   Revised: December 18, 2018   Accepted: December 19, 2018
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.
Keywords: Biliary tract cancer, cholangiocarcinoma, whole exome sequencings, somatic mutations


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