Identifying a Novel Pathogenic Mutation in Exon ۳ of ARID۱A Gene in Colon Cancer

ARID۱A, 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 ۲۰ primary human colorectal cancer tumors. Sanger sequencing of the exon ۳ of the ARID۱A gene revealed a novel heterozygous non-sense mutation of the c.۱۶۵۳C>G. This resulted in the premature termination of the ۲۲۸۵ amino acid protein at the ۵۵۱st codon. Mutation Taster predicted this novel mutation to be pathogenic. Immunohistochemical analysis revealed the loss of ARID۱A protein expression in cancerous tissues harboring ARID۱A mutation. As far as we know, this is the first report on the mutation of ARID۱A gene in an Iranian patient. This mutation can expand the spectrum of ARID۱A gene pathogenic mutations among colorectal cancer patients.

کلیدواژه ها:

ARID۱A ، Colon Cancer ، Novel mutation