Author/Authors :
Erfani, Mehran Department of Biochemistry - School of Medicine - Shiraz University of Medical Sciences, Shiraz, Iran , Mokarram, Pooneh Department of Biochemistry - School of Medicine - Shiraz University of Medical Sciences, Shiraz, Iran , Mokhtari, Maral Autophagy Research Center and Department of Pathology - Shiraz University of Medical Sciences, Shiraz, Iran , Fallahi, Jafar Molecular Medicine Department - School of Advanced Medical Sciences and Technologies - Shiraz University of Medical Sciences, Shiraz, Iran
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.
