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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Autores principales: Yoon, Kyong-Ah, Woo, Sang Myung, Kim, Yun-Hee, Kong, Sun-Young, Han, Sung-Sik, Park, Sang-Jae, Lee, Woo Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2018
Materias:
Clinical Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440663/
https://www.ncbi.nlm.nih.gov/pubmed/30602096
http://dx.doi.org/10.5808/GI.2018.16.4.e35
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author Yoon, Kyong-Ah
Woo, Sang Myung
Kim, Yun-Hee
Kong, Sun-Young
Han, Sung-Sik
Park, Sang-Jae
Lee, Woo Jin
author_facet Yoon, Kyong-Ah
Woo, Sang Myung
Kim, Yun-Hee
Kong, Sun-Young
Han, Sung-Sik
Park, Sang-Jae
Lee, Woo Jin
author_sort Yoon, Kyong-Ah
collection PubMed
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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spelling pubmed-64406632019-04-03 Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer Yoon, Kyong-Ah Woo, Sang Myung Kim, Yun-Hee Kong, Sun-Young Han, Sung-Sik Park, Sang-Jae Lee, Woo Jin Genomics Inform Clinical Genomics 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. Korea Genome Organization 2018-12 2018-12-28 /pmc/articles/PMC6440663/ /pubmed/30602096 http://dx.doi.org/10.5808/GI.2018.16.4.e35 Text en Copyright © 2018 by the Korea Genome Organization It is identical to the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/).
spellingShingle Clinical Genomics
Yoon, Kyong-Ah
Woo, Sang Myung
Kim, Yun-Hee
Kong, Sun-Young
Han, Sung-Sik
Park, Sang-Jae
Lee, Woo Jin
Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
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 Clinical Genomics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440663/
https://www.ncbi.nlm.nih.gov/pubmed/30602096
http://dx.doi.org/10.5808/GI.2018.16.4.e35
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