GRCh38 · COSMIC v99


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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.
Paper ID
Yoon KA, Woo SM, Kim YH, Kong SY, Han SS, Park SJ and Lee WJ
College of Veterinary Medicine, Konkuk University, Seoul 05029, Korea.
Genomics & informatics, 2018;16(4):e35
ISSN: 1598-866X
PMID: 30602096 (view at PubMed or Europe PMC)
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.
Paper Status