Screening for susceptibility genes in hereditary non-polyposis colorectal cancer

Oncology Letters
Li YuKe Cao

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 sub...Continue Reading

Citations

Apr 4, 2019·BMC Genomics·Alberto Berral-GonzalezGuillermo Ayala
Nov 25, 2020·International Journal of Molecular Sciences·Iris B A W Te PaskeRicharda M de Voer
Nov 17, 2020·Frontiers in Veterinary Science·Eduardo CasasJohn D Lippolis
Mar 14, 2021·Analytical and Bioanalytical Chemistry·Loan Thi NgoTze-Ta Huang

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