Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.
作者： Idy C‐Y Leung , Charing C‐N Chong , Tan T Cheung , Philip C Yeung , Kelvin K‐C Ng
DOI: 10.1111/JCMM.15691
关键词:
摘要: Expression of ATP-binding cassette B5 (ABCB5) has been demonstrated to confer chemoresistance, enhance cancer stem cell properties and associate with poor prognosis in hepatocellular carcinoma (HCC). The aim this study was evaluate the genetic variations ABCB5 HCC patients reference healthy individuals clinicopathological significance. A pilot examined 20 out 300 pairs paralleled blood samples using conventional sequencing method cover all exons exon/intron regions investigate whether there will be novel variant sequence mutation event. total DNA were then by Sequenom MassARRAY genotyping pyrosequencing for 38 SNP 1 INDEL ABCB5. Five SNPs identified Comparison from that rs75494098, rs4721940 rs10254317 associated risk. Specific variants aggressive features. rs17143212 significantly expression level. Nonetheless, tumour sequences indicated tumours not common corroborated TCGA data sets. In conclusion, had significant association risk properties.
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