title: Novelty of Axin 2 and lack of Axin 1 gene mutation in colorectal cancer: a study in Kashmiri population.
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.
authors.affiliation: Department of Clinical Biochemistry, Sher-I-Kashmir Institute of Medical Sciences, Srinagar 190 011, Kashmir, India.
authors.forename: Nighat P
authors.initials: NP
authors.lastname: Khan
authors.forename: Arshad A
authors.initials: AA
authors.lastname: Pandith
authors.forename: Mahboob Ul
authors.initials: MU
authors.lastname: Hussain
authors.forename: Adfar
authors.initials: A
authors.lastname: Yousuf
authors.forename: Mosin S
authors.initials: MS
authors.lastname: Khan
authors.forename: Khursheed A
authors.initials: KA
authors.lastname: Wani
authors.forename: Syed
authors.initials: S
authors.lastname: Mudassar
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D000368:Aged; D060466:Axin Protein / Q000235:genetics*; D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
chemical_list: C555451:AXIN1 protein, human; C491761:AXIN2 protein, human; D060466:Axin Protein