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Novelty of Axin 2 and lack of Axin 1 gene mutation in colorectal cancer: a study in Kashmiri population

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Abstract

Colorectal cancer is (CRC) one of the leading causes of mortality and morbidity. Various genetic factors have been reported to be involved in the development of colorectal cancers including Axin gene. Axin, a major scaffold protein, plays an important role in various bio signaling pathways. We aim to study mutational pattern of Axin gene in colorectal cancer patients of Kashmiri population. The paired tumor and adjacent normal tissue specimens of 50 consecutive patients with CRC were used in our study. The DNA preparations were evaluated for the occurrence of Axin 1 and Axin 2 gene mutations by direct DNA sequencing. We analyzed exon 1a, 1b, 1c, 2, 4, 6, and 10 of Axin 1 and exon 7 of Axin 2. In this study, we found a novel mutation of G>T (GCT>TCT) transversion in exon 7 of Axin 2 gene at codon G695T (p.alanine > serine) at a frequency of 6% (3/50). In the same exon of Axin 2 gene a single nucleotide polymorphism (SNP) was detected in codon L688L (CCT>CTT) at a frequency of 36% (18/50). In exon 1c of Axin 1 a SNP was detected at codon D726D (GAT>GAC) at a frequency of 62.5% (31/50). Both the SNPs were synonymous hence do not lead to change of amino acid. Although Axin 1 and Axin 2 gene mutations have been found to be involved in the development of colorectal cancers, it seems to be a relatively rare event in Kashmiri population. However, an interesting finding of this study is the novelty of Axin 2 gene mutations which may be a predisposing factor in ethnic Kashmiri population to CRC.

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Acknowledgments

The authors gratefully acknowledge the financial support provided by Sher-I-Kashmir Institute of Medical Sciences, Kashmir, for this study. Our thanks are also due to the Technical Staff especially Mr Ahad sahib and Reyaz ahmad of the operation theater of Department of General surgery who helped us in procuring the tissue samples.

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Authors and Affiliations

  1. Department of Clinical Biochemistry, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, 190 011, Kashmir, India

    Nighat P. Khan, Adfar Yousuf, Mosin S. Khan & Syed Mudassar

  2. Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, 190 011, Kashmir, India

    Arshad A. Pandith

  3. Department of Biotechnology, University of Kashmir, Srinagar, 190 011, Kashmir, India

    Mahboob Ul Hussain

  4. Department of General Surgery, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, 190 011, Kashmir, India

    Khursheed A. Wani

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  1. Nighat P. Khan
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Correspondence to Syed Mudassar.

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Khan, N.P., Pandith, A.A., Hussain, M.U. et al. Novelty of Axin 2 and lack of Axin 1 gene mutation in colorectal cancer: a study in Kashmiri population. Mol Cell Biochem 355, 149–155 (2011). https://doi.org/10.1007/s11010-011-0848-8

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  • DOI: https://doi.org/10.1007/s11010-011-0848-8

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