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      Reduced Frequency and Prognostic Significance of Ring Finger Protein 43 Nucleotide Polymorphisms in a Chinese Colorectal Cancer Cohort.

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          Abstract

          The aim of this research was to verify the mutation rate of the ring finger protein 43 (RNF43) of the transmembrane E3 ubiquitin ligase and investigate the influence of single nucleotide polymorphisms (SNPs) rs2257205 in RNF43 in a Chinese colorectal cancer (CRC) cohort. DNA from 177 diagnosed CRC patients' tissues or blood samples were extracted, amplified, and sequenced. Clinicopathological features, including age, gender, tumor location, tumor-lymph node-metastasis stage, and survival information, were analyzed. Four novel RNF43 mutations (including G659 and R117 sites) were validated in 177 CRC patients; all events were somatic frameshift mutations. Furthermore, we also found that an SNP (rs2257205) of the RNF43 X117 site was associated with overall survival (OS) instead of disease-free survival. G homozygote subjects were significantly correlated with poor OS compared with another group. Then we rescued RNF43 R117R (encoded by nucleotide CGC) and R117H (encoded by nucleotide CAC) expression in the HCT116 cells and analyzed the targets of the Wnt/β-catenin pathway. The expression of CCND1 and c-Myc were decreased. The prognosis of CRC patients could be affected by the different functions of SNPs of RNF43.

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          Author and article information

          Journal
          DNA Cell Biol
          DNA and cell biology
          Mary Ann Liebert Inc
          1557-7430
          1044-5498
          Jun 2019
          : 38
          : 6
          Affiliations
          [1 ] 1 Department of Colorectal and Anal Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
          [2 ] 2 Shanghai Colorectal Cancer Research Center, Shanghai, China.
          [3 ] 3 Guizhou Provincial People's Hospital Guiyang, Guizhou, China.
          Article
          10.1089/dna.2019.4645
          31140864
          41f66b0c-0cdd-4770-9cda-a3687f072c79
          History

          RNF43,SNP,survival rate,Chinese,colorectal cancer,mutation
          RNF43, SNP, survival rate, Chinese, colorectal cancer, mutation

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