Kavishahi Nima Nikbin, Khojini Javad Yaghmoorian, Duruh Mehrazin Khamespanah, Babaei Benjamin, Sheikhha Mohammad Hasan
Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Medical Biotechnology, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Iran J Public Health. 2025 Feb;54(2):309-320.
Colorectal cancer (CRC) is the fourth most common cancer and one of the most significant cancers affecting the Iranian population. This systematic review aimed to investigate the association between mutations in the gene and CRC.
We conducted a search of six databases, including; Scopus, PubMed, Web of Science, Cochrane Library, SID, and Magiran up to Aug 10, 2024. Concepts in the search strategy were Iran, P53, and "Colorectal cancer". Original articles written in English or Persian that investigated the association between gene mutations and CRC in the Iranian population were included.
Out of 313 articles, 17 articles were included in the study. Six case-control studies investigated the association between the codon 72 polymorphism of the gene and colorectal cancer. Three studies found a significant difference in genotype frequencies of this polymorphism between CRC patients and healthy individuals. Exon 6 was shown to be one of the most common mutated exons in colorectal cancer. Mutations in exon 7 were associated with poor prognosis. The most common type of mutation was G to A mutation from exons 5 to 8 CpG sites.
The present study suggests a potential association between the presence of the Arg allele at codon 72 within the gene and a heightened susceptibility for developing and metastasizing CRC within the Iranian population. Furthermore, exons 5 to 8 of the gene suggests that mutations localized at these sites may portend a poor prognosis.
结直肠癌（CRC）是第四大常见癌症，也是影响伊朗人群的最重要癌症之一。本系统评价旨在研究该基因中的突变与结直肠癌之间的关联。
我们检索了六个数据库，包括Scopus、PubMed、Web of Science、Cochrane图书馆、SID和Magiran，检索截至2024年8月10日。检索策略中的关键词为伊朗、P53和“结直肠癌”。纳入了用英文或波斯文撰写的、研究伊朗人群中该基因突变与结直肠癌之间关联的原创文章。
在313篇文章中，17篇被纳入研究。六项病例对照研究调查了该基因密码子72多态性与结直肠癌之间的关联。三项研究发现，结直肠癌患者与健康个体之间该多态性的基因型频率存在显著差异。外显子6被证明是结直肠癌中最常见的突变外显子之一。外显子7中的突变与预后不良有关。最常见的突变类型是外显子5至8 CpG位点的G到A突变。
本研究表明，该基因密码子72处存在Arg等位基因与伊朗人群中患结直肠癌及发生转移的易感性增加之间可能存在关联。此外，该基因的外显子5至8表明，位于这些位点的突变可能预示预后不良。
