Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
- Author:
Kyong Ah YOON
1
;
Sang Myung WOO
;
Yun Hee KIM
;
Sun Young KONG
;
Sung Sik HAN
;
Sang Jae PARK
;
Woo Jin LEE
Author Information
- Publication Type:Original Article
- Keywords: biliary tract neoplasms; cholangiocarcinoma; somatic mutations; whole-exome sequencing
- MeSH: Biliary Tract Neoplasms; Biliary Tract; Cholangiocarcinoma; Exome; Genes, Tumor Suppressor; Humans; Prognosis
- From:Genomics & Informatics 2018;16(4):e35-
- CountryRepublic of Korea
- Language:English
- 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
