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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 |
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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. |
doi_str_mv | 10.1186/s12885-021-07792-x |
format | article |
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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.</description><identifier>ISSN: 1471-2407</identifier><identifier>EISSN: 1471-2407</identifier><identifier>DOI: 10.1186/s12885-021-07792-x</identifier><identifier>PMID: 33579226</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>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</subject><ispartof>BMC cancer, 2021-02, Vol.21 (1), p.152-152, Article 152</ispartof><rights>COPYRIGHT 2021 BioMed Central Ltd.</rights><rights>2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c628t-6ac04c6cc7b12967331e3c7851734f5ea2279109a1525d1ee4011bef978eb3a73</citedby><cites>FETCH-LOGICAL-c628t-6ac04c6cc7b12967331e3c7851734f5ea2279109a1525d1ee4011bef978eb3a73</cites><orcidid>0000-0002-2028-1562</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7879680/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2491295440?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25751,27922,27923,37010,37011,44588,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33579226$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xu, Shifeng</creatorcontrib><creatorcontrib>Guo, Yuan</creatorcontrib><creatorcontrib>Zeng, Yanwu</creatorcontrib><creatorcontrib>Song, Zhijian</creatorcontrib><creatorcontrib>Zhu, Xiaodan</creatorcontrib><creatorcontrib>Fan, Ning</creatorcontrib><creatorcontrib>Zhang, Zhilei</creatorcontrib><creatorcontrib>Ren, Guibing</creatorcontrib><creatorcontrib>Zang, Yunjin</creatorcontrib><creatorcontrib>Rao, Wei</creatorcontrib><title>Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma</title><title>BMC cancer</title><addtitle>BMC Cancer</addtitle><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.</description><subject>Actionability</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Bile Duct Neoplasms - epidemiology</subject><subject>Bile Duct Neoplasms - genetics</subject><subject>Bile Duct Neoplasms - pathology</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Cancer</subject><subject>Cell growth</subject><subject>China - epidemiology</subject><subject>Chinese</subject><subject>Cholangiocarcinoma</subject><subject>Cholangiocarcinoma - epidemiology</subject><subject>Cholangiocarcinoma - genetics</subject><subject>Cholangiocarcinoma - pathology</subject><subject>Clinical significance</subject><subject>Comparative analysis</subject><subject>Datasets</subject><subject>Driver gene</subject><subject>Female</subject><subject>GATA-1 protein</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genomes</subject><subject>Genomic alteration</subject><subject>Genomics</subject><subject>Health aspects</subject><subject>High-Throughput Nucleotide Sequencing - methods</subject><subject>Humans</subject><subject>Immunotherapy</subject><subject>Intrahepatic cholangiocarcinoma</subject><subject>Laboratories</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Middle Aged</subject><subject>Molecular Targeted Therapy - methods</subject><subject>Mutation</subject><subject>Neoplasm Staging</subject><subject>Oncology, Experimental</subject><subject>Ontology</subject><subject>p53 Protein</subject><subject>Patients</subject><subject>Population</subject><subject>Precision medicine</subject><subject>Prognosis</subject><subject>Quality control</subject><subject>United States - epidemiology</subject><subject>Whites</subject><subject>Young Adult</subject><issn>1471-2407</issn><issn>1471-2407</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkl2L1DAUhoso7rr6B7yQgiB60TUfbZPcLCyDHwMLgh94GdL0tM3QScam1dl_7-nMuk5FctHk5Dlve96-SfKckktKZfk2UiZlkRFGMyKEYtn-QXJOc0EzlhPx8GR_ljyJcUMIFZLIx8kZ5wXyrDxP4qp33lnT97dpdK13DR78mLbgw9bZ1PQjDGZ0wcfU-XTsIF11zkOE1Pg6_Q4R7326QwT8GNNfbuwQHAfTwVy0qe1Cb3zrgjWDdahqniaPGtNHeHb3vEi-vX_3dfUxu_n0Yb26vslsyeSYlcaS3JbWiooyVQrOKXArZEEFz5sCDGNCUaIMLVhRU4CcUFpBo4SEihvBL5L1UbcOZqN3g9ua4VYH4_ShEIZWmwE_sQdNLatlbYTipMqNsspUVdnwshBgG1sr1Lo6au2magu1hXnEfiG6vPGu0234qYUUqpQEBV7fCQzhx4S26a2LFnr0BsIUNculYqWglCL68h90E6bBo1VIKfSiyHPyl2oNDuB8E_C9dhbV12XBC6lyOWtd_ofCVQP-3uChcVhfNLxZNCAzwn5szRSjXn_5vGRfnbAdYFi6GPrpEJclyI6gHUKMAzT3xlGi5yzrY5Y1Zlkfsqz32PTi1PL7lj_h5b8B2Q_vZQ</recordid><startdate>20210212</startdate><enddate>20210212</enddate><creator>Xu, Shifeng</creator><creator>Guo, Yuan</creator><creator>Zeng, Yanwu</creator><creator>Song, Zhijian</creator><creator>Zhu, Xiaodan</creator><creator>Fan, Ning</creator><creator>Zhang, Zhilei</creator><creator>Ren, Guibing</creator><creator>Zang, Yunjin</creator><creator>Rao, Wei</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7TO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-2028-1562</orcidid></search><sort><creationdate>20210212</creationdate><title>Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma</title><author>Xu, Shifeng ; Guo, Yuan ; Zeng, Yanwu ; Song, Zhijian ; Zhu, Xiaodan ; Fan, Ning ; Zhang, Zhilei ; Ren, Guibing ; Zang, Yunjin ; Rao, Wei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c628t-6ac04c6cc7b12967331e3c7851734f5ea2279109a1525d1ee4011bef978eb3a73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Actionability</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Bile Duct Neoplasms - epidemiology</topic><topic>Bile Duct Neoplasms - genetics</topic><topic>Bile Duct Neoplasms - pathology</topic><topic>Biomarkers, Tumor - genetics</topic><topic>Cancer</topic><topic>Cell growth</topic><topic>China - epidemiology</topic><topic>Chinese</topic><topic>Cholangiocarcinoma</topic><topic>Cholangiocarcinoma - epidemiology</topic><topic>Cholangiocarcinoma - genetics</topic><topic>Cholangiocarcinoma - pathology</topic><topic>Clinical significance</topic><topic>Comparative analysis</topic><topic>Datasets</topic><topic>Driver gene</topic><topic>Female</topic><topic>GATA-1 protein</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genomes</topic><topic>Genomic alteration</topic><topic>Genomics</topic><topic>Health aspects</topic><topic>High-Throughput Nucleotide Sequencing - methods</topic><topic>Humans</topic><topic>Immunotherapy</topic><topic>Intrahepatic cholangiocarcinoma</topic><topic>Laboratories</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Middle Aged</topic><topic>Molecular Targeted Therapy - methods</topic><topic>Mutation</topic><topic>Neoplasm Staging</topic><topic>Oncology, Experimental</topic><topic>Ontology</topic><topic>p53 Protein</topic><topic>Patients</topic><topic>Population</topic><topic>Precision medicine</topic><topic>Prognosis</topic><topic>Quality control</topic><topic>United States - epidemiology</topic><topic>Whites</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xu, Shifeng</creatorcontrib><creatorcontrib>Guo, Yuan</creatorcontrib><creatorcontrib>Zeng, Yanwu</creatorcontrib><creatorcontrib>Song, Zhijian</creatorcontrib><creatorcontrib>Zhu, Xiaodan</creatorcontrib><creatorcontrib>Fan, Ning</creatorcontrib><creatorcontrib>Zhang, Zhilei</creatorcontrib><creatorcontrib>Ren, Guibing</creatorcontrib><creatorcontrib>Zang, Yunjin</creatorcontrib><creatorcontrib>Rao, Wei</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals (DOAJ)</collection><jtitle>BMC cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xu, Shifeng</au><au>Guo, Yuan</au><au>Zeng, Yanwu</au><au>Song, Zhijian</au><au>Zhu, Xiaodan</au><au>Fan, Ning</au><au>Zhang, Zhilei</au><au>Ren, Guibing</au><au>Zang, Yunjin</au><au>Rao, Wei</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma</atitle><jtitle>BMC cancer</jtitle><addtitle>BMC Cancer</addtitle><date>2021-02-12</date><risdate>2021</risdate><volume>21</volume><issue>1</issue><spage>152</spage><epage>152</epage><pages>152-152</pages><artnum>152</artnum><issn>1471-2407</issn><eissn>1471-2407</eissn><abstract>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.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>33579226</pmid><doi>10.1186/s12885-021-07792-x</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0002-2028-1562</orcidid><oa>free_for_read</oa></addata></record> |
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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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