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Article

Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer

  • Authors:
    • Li Yu
    • Bo Yin
    • Kaiying Qu
    • Jingjing Li
    • Qiao Jin
    • Ling Liu
    • Chunlan Liu
    • Yuxing Zhu
    • Qi Wang
    • Xiaowei Peng
    • Jianda Zhou
    • Peiguo Cao
    • Ke Cao
  • View Affiliations / Copyright

    Affiliations: Department of Oncology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China, Department of Plastic and Reconstructive Surgery, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China, Department of Out‑patient Office, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China, Department of Gynecology and Obstetrics, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China, Department of Head and Neck Surgery and Oncology Plastic Surgery, The Affiliated Cancer Hospital of Xiangya Medical School, Central South University, Changsha, Hunan 410013, P.R. China
  • Pages: 9413-9419
    |
    Published online on: April 16, 2018
       https://doi.org/10.3892/ol.2018.8504
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Abstract

In the present study, hereditary non‑polyposis colorectal cancer (HNPCC) susceptibility genes were screened for using whole exome sequencing in 3 HNPCC patients from 1 family and using single nucleotide polymorphism (SNP) genotyping assays in 96 other colorectal cancer and control samples. Peripheral blood was obtained from 3 HNPCC patients from 1 family; the proband and the proband's brother and cousin. High‑throughput sequencing was performed using whole exome capture technology. Sequences were aligned against the HAPMAP, dbSNP130 and 1,000 Genome Project databases. Reported common variations and synonymous mutations were filtered out. Non‑synonymous single nucleotide variants in the 3 HNPCC patients were integrated and the candidate genes were identified. Finally, SNP genotyping was performed for the genes in 96 peripheral blood samples. In total, 60.4 Gb of data was retrieved from the 3 HNPCC patients using whole exome capture technology. Subsequently, according to certain screening criteria, 15 candidate genes were identified. Among the 96 samples that had been SNP genotyped, 92 were successfully genotyped for 15 gene loci, while genotyping for HTRA1 failed in 4 sporadic colorectal cancer patient samples. In 12 control subjects and 81 sporadic colorectal cancer patients, genotypes at 13 loci were wild‑type, namely DDX20, ZFYVE26, PIK3R3, SLC26A8, ZEB2, TP53INP1, SLC11A1, LRBA, CEBPZ, ETAA1, SEMA3G, IFRD2 and FAT1. The CEP290 genotype was mutant in 1 sporadic colorectal cancer patient and was wild‑type in all other subjects. A total of 5 of the 12 control subjects and 30 of the 81 sporadic colorectal cancer patients had a mutant HTRA1 genotype. In all 3 HNPCC patients, the same mutant genotypes were identified at all 15 gene loci. Overall, 13 potential susceptibility genes for HNPCC were identified, namely DDX20, ZFYVE26, PIK3R3, SLC26A8, ZEB2, TP53INP1, SLC11A1, LRBA, CEBPZ, ETAA1, SEMA3G, IFRD2 and FAT1.
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Copy and paste a formatted citation
Spandidos Publications style
Yu L, Yin B, Qu K, Li J, Jin Q, Liu L, Liu C, Zhu Y, Wang Q, Peng X, Peng X, et al: Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer. Oncol Lett 15: 9413-9419, 2018.
APA
Yu, L., Yin, B., Qu, K., Li, J., Jin, Q., Liu, L. ... Cao, K. (2018). Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer. Oncology Letters, 15, 9413-9419. https://doi.org/10.3892/ol.2018.8504
MLA
Yu, L., Yin, B., Qu, K., Li, J., Jin, Q., Liu, L., Liu, C., Zhu, Y., Wang, Q., Peng, X., Zhou, J., Cao, P., Cao, K."Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer". Oncology Letters 15.6 (2018): 9413-9419.
Chicago
Yu, L., Yin, B., Qu, K., Li, J., Jin, Q., Liu, L., Liu, C., Zhu, Y., Wang, Q., Peng, X., Zhou, J., Cao, P., Cao, K."Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer". Oncology Letters 15, no. 6 (2018): 9413-9419. https://doi.org/10.3892/ol.2018.8504
Copy and paste a formatted citation
x
Spandidos Publications style
Yu L, Yin B, Qu K, Li J, Jin Q, Liu L, Liu C, Zhu Y, Wang Q, Peng X, Peng X, et al: Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer. Oncol Lett 15: 9413-9419, 2018.
APA
Yu, L., Yin, B., Qu, K., Li, J., Jin, Q., Liu, L. ... Cao, K. (2018). Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer. Oncology Letters, 15, 9413-9419. https://doi.org/10.3892/ol.2018.8504
MLA
Yu, L., Yin, B., Qu, K., Li, J., Jin, Q., Liu, L., Liu, C., Zhu, Y., Wang, Q., Peng, X., Zhou, J., Cao, P., Cao, K."Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer". Oncology Letters 15.6 (2018): 9413-9419.
Chicago
Yu, L., Yin, B., Qu, K., Li, J., Jin, Q., Liu, L., Liu, C., Zhu, Y., Wang, Q., Peng, X., Zhou, J., Cao, P., Cao, K."Screening for susceptibility genes in hereditary non‑polyposis colorectal cancer". Oncology Letters 15, no. 6 (2018): 9413-9419. https://doi.org/10.3892/ol.2018.8504
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