Middle East Journal of Cancer

Identifying a Novel Pathogenic Mutation in Exon 3 of ARID1A Gene in Colon Cancer

Document Type : Brief Communication

Authors

Mehran Erfani 1
Pooneh Mokarram 1
Maral Mokhtari 2
Jafar Fallahi 3

1 Department of Biochemistry, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

2 Autophagy Research Center and Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran

3 Molecular Medicine Department, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran

https://doi.org/10.30476/mejc.2020.82149.1060
Abstract
ARID1A, a bona fide tumor suppressor, is the third most mutated gene in human colorectal cancer. In this paper, we reported the identification of a novel mutation in one of 20 primary human colorectal cancer tumors. Sanger sequencing of the exon 3 of the ARID1A gene revealed a novel heterozygous non-sense mutation of the c.1653C>G. This resulted in the premature termination of the 2285 amino acid protein at the 551st codon. Mutation Taster predicted this novel mutation to be pathogenic. Immunohistochemical analysis revealed the loss of ARID1A protein expression in cancerous tissues harboring ARID1A mutation. As far as we know, this is the first report on the mutation of ARID1A gene in an Iranian patient. This mutation can expand the spectrum of ARID1A gene pathogenic mutations among colorectal cancer patients.

Keywords

ARID1A
Colon cancer
Novel mutation

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