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

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...

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Veröffentlicht in:Middle East journal of cancer Jg. 11; H. 2; S. 225 - 229
Hauptverfasser: Mehran Erfani, Pooneh Mokarram, Maral Mokhtari, Jafar Fallahi
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Shiraz University of Medical Sciences 01.04.2020
Schlagworte:
arid1a
colon cancer
novel mutation
ISSN:2008-6709, 2008-6687
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Zusammenfassung: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.
ISSN:2008-6709
2008-6687
DOI:10.30476/mejc.2020.82149.1060