Identification of chromosomal copy number variations and novel candidate loci in hereditary nonpolyposis colorectal cancer with mismatch repair proficiency

Genomics

Lin Yuan¹  Ping Wei¹  Ying Cai¹  Xiaocheng Chen¹  Xiaoyan Zhou¹  Yayun Chi¹  Weixiang Chen¹  Daren Shi¹ 

关键词: HNPCC;    MMR;    MSS;    MSI;    CNV;    LOH;    cnLOH;    qPCR;    Colorectal neoplasms;    hereditary nonpolyposis;    Copy number variation;    CytoScan HD Array;    Genome-wide analysis;   

DOI  :  10.1016/j.ygeno.2013.02.003

学科分类：医学（综合）

来源: Academic Press

【 摘 要 】

Thepathogenesisofmicrosatellitestablehereditarynon-polyposiscolorectalcancers(MSSHNPCC)isunclear.ToidentifygenomicregionsthatmightbeinvolvedinMSSHNPCCpathogenesis,weselected20pairsofMSSHNPCCforagenome-widestudyusingcopynumbervariationtargeted(CNV-targeted)CytoScanHDArray.Aremarkablyincreasedfrequencyof20qgain(70%)andhighlevelsofcopy-neutrallossofheterozygosity(40%)wereobserved.Themostfrequenttumor-specificCNVsincludedamplifications(7p21.3-15.1,8q13.3-24.3,13q14.1-33.3and20q12-13.33)anddeletions(8p11.23-23.1,15q11.2-26.1,17p13.1-13.3and18q11.2-21.33).Inaddition,10novelCNVswerediscoveredandledtoidentificationofWDR16andRAPGEF5ascandidategenesinvolvedintumorigenesis,displayingarobustcorrelationbetweenexpressionandgenomicalterations.Moreover,WDR16andRAPGEF5exhibitedalteredproteinexpressionlevelsasassessedbyimmunohistochemistry(IHC)in41otherindependentsamples.Finally,highconsistencies(68ndash;84%)wereobservedbetweenCNVsbyArrayandquantitativePCR.ThesefindingsareimportantforfurtherelucidatingMSSHNPCCpathogenesis.

【 授权许可】

Unknown   

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