Genomics Inform.  2018 Dec;16(4):e35. 10.5808/GI.2018.16.4.e35.

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

Affiliations
  • 1College of Veterinary Medicine, Konkuk University, Seoul 05029, Korea.
  • 2Center for Liver Cancer, National Cancer Center, Goyang 10408, Korea. wsm@ncc.re.kr
  • 3Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy, Goyang 10408, Korea.
  • 4Center for Diagnostic Oncology, National Cancer Center, Goyang 10408, Korea.

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

Keyword

biliary tract neoplasms; cholangiocarcinoma; somatic mutations; whole-exome sequencing

MeSH Terms

Biliary Tract Neoplasms*
Biliary Tract*
Cholangiocarcinoma
Exome*
Genes, Tumor Suppressor
Humans
Prognosis
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