Jalalifar, Atiye, Safavi, Leila, Moradifard, Shirin, Banoei, Mahdieh, Khalilollahi, Mohammad, Mohammad Ganji, Shahla (2025). Investigating the possible roles of mutations in axin1 and axin2 genes in colorectal cancer. , 28(2), 13-25.
Atiye Jalalifar; Leila Safavi; Shirin Moradifard; Mahdieh Banoei; Mohammad Khalilollahi; Shahla Mohammad Ganji. "Investigating the possible roles of mutations in axin1 and axin2 genes in colorectal cancer". , 28, 2, 2025, 13-25.
Jalalifar, Atiye, Safavi, Leila, Moradifard, Shirin, Banoei, Mahdieh, Khalilollahi, Mohammad, Mohammad Ganji, Shahla (2025). 'Investigating the possible roles of mutations in axin1 and axin2 genes in colorectal cancer', , 28(2), pp. 13-25.
Jalalifar, Atiye, Safavi, Leila, Moradifard, Shirin, Banoei, Mahdieh, Khalilollahi, Mohammad, Mohammad Ganji, Shahla Investigating the possible roles of mutations in axin1 and axin2 genes in colorectal cancer. , 2025; 28(2): 13-25.

Investigating the possible roles of mutations in axin1 and axin2 genes in colorectal cancer

Pathobiology Reserach
Article 2, Volume 28, Issue 2, 2025, Pages 13-25    PDF (834.73 K)
Document Type: Original Research
Authors
Atiye Jalalifar1; Leila Safavi2; Shirin Moradifard3; Mahdieh Banoei4; Mohammad Khalilollahi2; Shahla Mohammad Ganji* 1
1Department of Molecular Medicine, Medical Biotechnology Institute, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
2Department of Biology, North Tehran Branch, Islamic Azad University, Tehran, Iran.
3Hudson Institute of Medical Research, Monash University, Melbourne, VIC, Australia
4Department of Molecular Medicine, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
Abstract
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 axin1 and axin2 in association with CRC.

Methods: Our study contains 147 fresh frozen samples from CRC patients, 25 normal samples, and 3 cell lines, including HT29, SW480, and CACO-2. The chosen SNPs from databases are placed in exon 5 of axin1, in exon 2 of axin1, and in exon 7 of axin2. By PCR-RFLP method, mutated samples were identified and sequenced.

Results: The results showed that mutations in the single-nucleotide polymorphism (SNP) in axin2 were observed in 1 out of 147 patient samples (0.68%). In the three sequences examined in axin2 (exon 7), mutations in SNP with rs79024445 at A2052C 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=0.016) as well as the degree of tumor diffusion to the lymph nodes factor with a grade of cancer (P=0.001).
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
Keywords
Axin1; Axin2; SNPs; Colorectal cancer; RFLP
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