GRCh38 · COSMIC v99

Summary

This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Reference
Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.
Paper ID
COSP46181
Authors
Yoon KA, Woo SM, Kim YH, Kong SY, Han SS, Park SJ and Lee WJ
Affiliation
College of Veterinary Medicine, Konkuk University, Seoul 05029, Korea.
Journal
Genomics & informatics, 2018;16(4):e35
ISSN: 1598-866X
PMID: 30602096 (view at PubMed or Europe PMC)
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.
Paper Status
Curated