Investigating the possible roles of mutations in axin۱ and axin۲ genes in colorectal cancer

Introduction: Colorectal cancer (CRC) is one of the leading cancers, following skin, breast, and stomach cancers. This study aimed to investigate the relationship between mutations in axin۱ and axin۲ in association with CRC. Methods: Our study contains ۱۴۷ fresh frozen samples from CRC patients, ۲۵ normal samples, and ۳ cell lines, including HT۲۹, SW۴۸۰, and CACO-۲. The chosen SNPs from databases are placed in exon ۵ of axin۱, in exon ۲ of axin۱, and in exon ۷ of axin۲. By PCR-RFLP method, mutated samples were identified and sequenced. Results: The results showed that mutations in the single-nucleotide polymorphism (SNP) in axin۲ were observed in ۱ out of ۱۴۷ patient samples (۰.۶۸%). In the three sequences examined in axin۲ (exon ۷), mutations in SNP with rs۷۹۰۲۴۴۴۵ at A۲۰۵۲C were observed. Statistical analysis of clinical and pathological data of patients showed a significant relationship between the tumor size factor and grade of cancer (P=۰.۰۱۶) as well as the degree of tumor diffusion to the lymph nodes factor with a grade of cancer (P=۰.۰۰۱). Conclusion: The multi-factorial nature of cancer, the high genetic diversity of the Iranian population, and the limited statistical population could affect these outcomes. The observed mutations in each sample can also indicate the importance of personalized medicine in studying diseases.

کلیدواژه ها:

Axin۱ ، Axin۲ ، SNPs ، Colorectal cancer ، RFLP