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Erfani, Mehran, Mokarram, Pooneh, Mokhtari, Maral, Fallahi, Jafar. (1399). Identifying a Novel Pathogenic Mutation in Exon 3 of ARID1A Gene in Colon Cancer. سامانه مدیریت نشریات علمی, 11(2), 225-229. doi: 10.30476/mejc.2020.82149.1060
Mehran Erfani; Pooneh Mokarram; Maral Mokhtari; Jafar Fallahi. "Identifying a Novel Pathogenic Mutation in Exon 3 of ARID1A Gene in Colon Cancer". سامانه مدیریت نشریات علمی, 11, 2, 1399, 225-229. doi: 10.30476/mejc.2020.82149.1060
Erfani, Mehran, Mokarram, Pooneh, Mokhtari, Maral, Fallahi, Jafar. (1399). 'Identifying a Novel Pathogenic Mutation in Exon 3 of ARID1A Gene in Colon Cancer', سامانه مدیریت نشریات علمی, 11(2), pp. 225-229. doi: 10.30476/mejc.2020.82149.1060
Erfani, Mehran, Mokarram, Pooneh, Mokhtari, Maral, Fallahi, Jafar. Identifying a Novel Pathogenic Mutation in Exon 3 of ARID1A Gene in Colon Cancer. سامانه مدیریت نشریات علمی, 1399; 11(2): 225-229. doi: 10.30476/mejc.2020.82149.1060

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

Middle East Journal of Cancer
مقاله 13، دوره 11، شماره 2 - شماره پیاپی 42، تیر 2020، صفحه 225-229    اصل مقاله (1.1 M)
نوع مقاله: Brief Communication
شناسه دیجیتال (DOI): 10.30476/mejc.2020.82149.1060
نویسندگان
Mehran Erfani1؛ Pooneh Mokarram* 1؛ Maral Mokhtari2؛ Jafar Fallahi3
1Department of Biochemistry, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
2Autophagy Research Center and Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran
3Molecular Medicine Department, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran
چکیده
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.
کلیدواژه‌ها
ARID1A؛ Colon cancer؛ Novel mutation
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