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

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 pa...

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Main Authors: Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Sung-Sik Han, Sang-Jae Park, Woo Jin Lee
Format: Article
Language:English
Published: BioMed Central 2018-12-01
Series:Genomics & Informatics
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Online Access:http://genominfo.org/upload/pdf/gi-2018-16-4-e35.pdf
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author Kyong-Ah Yoon
Sang Myung Woo
Yun-Hee Kim
Sun-Young Kong
Sung-Sik Han
Sang-Jae Park
Woo Jin Lee
author_facet Kyong-Ah Yoon
Sang Myung Woo
Yun-Hee Kim
Sun-Young Kong
Sung-Sik Han
Sang-Jae Park
Woo Jin Lee
author_sort Kyong-Ah Yoon
collection DOAJ
description 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.
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institution Kabale University
issn 2234-0742
language English
publishDate 2018-12-01
publisher BioMed Central
record_format Article
series Genomics & Informatics
spelling doaj-art-f27e384e653c4a8eb8732cb8105022742025-02-02T02:30:09ZengBioMed CentralGenomics & Informatics2234-07422018-12-0116410.5808/GI.2018.16.4.e35537Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract CancerKyong-Ah Yoon0Sang Myung Woo1Yun-Hee Kim2Sun-Young Kong3Sung-Sik Han4Sang-Jae Park5Woo Jin Lee6 College of Veterinary Medicine, Konkuk University, Seoul 05029, Korea Center for Liver Cancer, National Cancer Center, Goyang 10408, Korea Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy, Goyang 10408, Korea Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy, Goyang 10408, Korea Center for Liver Cancer, National Cancer Center, Goyang 10408, Korea Center for Liver Cancer, National Cancer Center, Goyang 10408, Korea Center for Liver Cancer, National Cancer Center, Goyang 10408, KoreaBiliary 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.http://genominfo.org/upload/pdf/gi-2018-16-4-e35.pdfbiliary tract neoplasmscholangiocarcinomasomatic mutationswhole-exome sequencing
spellingShingle Kyong-Ah Yoon
Sang Myung Woo
Yun-Hee Kim
Sun-Young Kong
Sung-Sik Han
Sang-Jae Park
Woo Jin Lee
Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
Genomics & Informatics
biliary tract neoplasms
cholangiocarcinoma
somatic mutations
whole-exome sequencing
title Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
title_full Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
title_fullStr Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
title_full_unstemmed Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
title_short Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
title_sort somatic mutations from whole exome sequencing analysis of the patients with biliary tract cancer
topic biliary tract neoplasms
cholangiocarcinoma
somatic mutations
whole-exome sequencing
url http://genominfo.org/upload/pdf/gi-2018-16-4-e35.pdf
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