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Basic Characteristics of Mutations
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Mutation Site
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T766A |
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Mutation Site Sentence
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These included well-studied mutations (e.g., the pre-S2 start codon mutation and pre-S deletion) and less well-defined mutations (e.g., C3026A or T in pre-S1, T31C and T53C in pre-S2, A162G, T531C or G, A706C, and T766A in S). |
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Mutation Level
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Nucleotide level |
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Mutation Type
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Nonsynonymous substitution |
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Gene/Protein/Region
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S |
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Standardized Encoding Gene
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S
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Genotype/Subtype
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B;C |
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Viral Reference
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GI289976889;GI289976881
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Functional Impact and Mechanisms
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Disease
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Carcinoma, Hepatocellular
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Immune
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Y |
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Target Gene
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-
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Clinical and Epidemiological Correlations
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Clinical Information
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Y |
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Treatment
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- |
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Location
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China |
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Literature Information
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PMID
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24849936
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Title
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Association of hepatitis B virus pre-S deletions with the development of hepatocellular carcinoma in Qidong, China
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Author
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Qu LS,Liu JX,Liu TT,Shen XZ,Chen TY,Ni ZP,Lu CH
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Journal
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PloS one
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Journal Info
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2014 May 21;9(5):e98257
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Abstract
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BACKGROUND/AIM: To investigate the roles of mutations in pre-S and S regions of hepatitis B virus (HBV) on the progression of hepatocellular carcinoma (HCC) in Qidong, China. METHODS: We conducted an age matched case-control study within a cohort of 2387 male HBV carriers who were recruited from August, 1996. The HBV DNA sequence in pre-S/S regions was successfully determined in 96 HCC cases and 97 control subjects. In addition, a consecutive series of samples from 11 HCC cases were employed to evaluate the pre-S deletion patterns before and after the occurrence of HCC. RESULTS: After adjustment for age, history of cigarette smoking and alcohol consumption, HBeAg positivity, pre-S deletions, pre-S2 start codon mutations, and T53C mutation were significantly associated with HCC, showing adjusted odds ratios (ORs) from 1.914 to 3.199. HCC patients also had a lower frequency of T31C mutation in pre-S2 gene, compared with control subjects (0.524; 95% CI 0.280-0.982). HBV pre-S deletions were clustered mainly in the 5' end of pre-S2 region. Multivariate analysis showed that pre-S deletions and pre-S2 start codon mutations were independent risk factors for HCC. The OR (95% CI) were 2.434 (1.063-5.573) and 3.065 (1.099-8.547), respectively. The longitudinal observation indicated that the pre-S deletion mutations were not acquired at the beginning of HBV infection, but that the mutations occurred during the long course of liver disease. CONCLUSION: Pre-S deletions and pre-S2 start codon mutations were independently associated with the development of HCC. The results also provided direct evidence that pre-S deletion mutations were not acquired from the beginning of infection but arose de novo during the progression of liver disease.
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Sequence Data
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-
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