Association of APC and MUTYH Mutations with Colorectal Cancer

semanticscholar(2021)

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摘要
PurposeColorectal cancer (CRC) is one of the most fatal cancers in the world. Determining if the risk of polymorphism alleles for CRC could contribute to clinical situations suggestive of an increased genetic risk for CRC is of significant importance. The aim of this study was to evaluate the association of genetic polymorphisms in two genes, APC and MUTYH, with CRC susceptibility in Iranian society. MethodsIn this experimental study, DNA was extracted from 200 blood samples (100 control and 100 patients with CRC). After identifying point mutations in APC and MUTYH genes and designing primers, they were examined by Tetra-arms PCR technique. Chi-square test was used to calculate and analyze the statistical and frequency of SNP in patients and control groups. ResultsSNPs: rs121913333, rs77542170, rs1801166 and rs869312753 showed significant association with CRC. rs121913333 on 5q22 appeared to have the highest degree of correlation with CRC (P=0.0001). ConclusionOur findings indicate that APC and MUTYH mutations are related to the incidence of colorectal cancer. Not only mutant but also heterozygous genotype has a significant role in CRC development.
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关键词
mutyh mutations,colorectal cancer,apc
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