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Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma

The goal of this study is to disclose the clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma. A total of 86 Chinese patients were enrolled in this study. A panel of 579 pan-cancer genes was sequenced for the qualified samples from thes...

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Published in:BMC cancer 2021-02, Vol.21 (1), p.152-152, Article 152
Main Authors: Xu, Shifeng, Guo, Yuan, Zeng, Yanwu, Song, Zhijian, Zhu, Xiaodan, Fan, Ning, Zhang, Zhilei, Ren, Guibing, Zang, Yunjin, Rao, Wei
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creator Xu, Shifeng
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description The goal of this study is to disclose the clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma. A total of 86 Chinese patients were enrolled in this study. A panel of 579 pan-cancer genes was sequenced for the qualified samples from these patients. Driver genes, actionability, and tumor mutational burden were inferred and compared to a cohort of Western patients. Totally, 36 and 12 driver genes were identified in the Chinese and Western cohorts, respectively. Of them, seven driver genes (IDH1, KRAS, TP53, BAP1, PBRM1, ARID1A, and NRAS) were shared by the two cohorts. Four driver genes (SPTA1, ARID2, TP53, and GATA1) were found significantly correlated with the tumor mutational burden. For both cohorts, half of the patients had actionable mutations. The two cohorts shared the most actionable genes but differed much in their frequency. Though KRAS mutations were at the first and second actionable rank respectively for the Chinese and Western populations, they were still at a relatively low level of actionable evidence. The study on the clinical significance of genomic alterations directs the future development of precision medicine for intrahepatic cholangiocarcinoma treatment.
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subjects Actionability
Adolescent
Adult
Aged
Aged, 80 and over
Bile Duct Neoplasms - epidemiology
Bile Duct Neoplasms - genetics
Bile Duct Neoplasms - pathology
Biomarkers, Tumor - genetics
Cancer
Cell growth
China - epidemiology
Chinese
Cholangiocarcinoma
Cholangiocarcinoma - epidemiology
Cholangiocarcinoma - genetics
Cholangiocarcinoma - pathology
Clinical significance
Comparative analysis
Datasets
Driver gene
Female
GATA-1 protein
Genes
Genetic aspects
Genomes
Genomic alteration
Genomics
Health aspects
High-Throughput Nucleotide Sequencing - methods
Humans
Immunotherapy
Intrahepatic cholangiocarcinoma
Laboratories
Male
Medical prognosis
Middle Aged
Molecular Targeted Therapy - methods
Mutation
Neoplasm Staging
Oncology, Experimental
Ontology
p53 Protein
Patients
Population
Precision medicine
Prognosis
Quality control
United States - epidemiology
Whites
Young Adult
title Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma
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