BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran

Background Colorectal carcinoma is the third most commonly diagnosed cancer worldwide and many studies have focused on its molecular basis. BRAF V600E is the single most important mutation of this gene in cancers. It shows variable, but usually low, frequency in colorectal cancer, but is associated...

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Autores principales: Farshid Javadi, Bita Geramizadeh, Mitra Mirzai
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Publicado: Shiraz University of Medical Sciences 2014
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Acceso en línea:https://doaj.org/article/72126fdc9bdd425fbf1c0d1a13891d68
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spelling oai:doaj.org-article:72126fdc9bdd425fbf1c0d1a13891d682021-11-14T07:57:19ZBRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran2783-243010.17795/acr-19917https://doaj.org/article/72126fdc9bdd425fbf1c0d1a13891d682014-06-01T00:00:00Zhttps://colorectalresearch.sums.ac.ir/article_45464_9f41dedfc602768a57f38b668bf41db2.pdfhttps://doaj.org/toc/2783-2430Background Colorectal carcinoma is the third most commonly diagnosed cancer worldwide and many studies have focused on its molecular basis. BRAF V600E is the single most important mutation of this gene in cancers. It shows variable, but usually low, frequency in colorectal cancer, but is associated with distinct histologic, prognostic and molecular features. It is highly associated with MSI (microsatellite instability), CIMP-H (CpG island methylator phenotype), serrated pathway, poor prognosis and resistance to anti-EGFR (epidermal growth factor) drugs and interestingly absent in Lynch syndrome. Objectives In this study, we analyzed BRAF V600E mutation in colorectal cancer in Iranian patients. Patients and Methods One hundred patients with colorectal cancer, operated in hospitals affiliated to Shiraz University of medical Sciences (Faghihi and Namazi Hospital) were selected. The cases were chosen from the pathology files of the above mentioned hospitals, during 2011-2013. Genomic DNA were extracted from the paraffin blocks, by the DNP TM kit, amplified using conventional PCR and DNA sequenced using the automated sequencer (Sanger method). Results Patients were 21-87 years old (mean = 59.8), 45% female and 55% male. Thirty percent of the cases had right-sided and 70% left-sided cancer, of which 83% were well and 17% moderately differentiated. No BRAF V600E mutation was detected in these 100 cases. Conclusions The BRAF mutation is not common in colorectal cancer patients in the South of Iran. Our results are very similar to very few previous studies conducted in Iran, although we suggest further studies with larger numbers of patients to confirm these results.Farshid JavadiBita GeramizadehMitra MirzaiShiraz University of Medical Sciencesarticlecolorectal cancergeneiranMedicineRENIranian Journal of Colorectal Research, Vol 2, Iss 2, Pp 0-0 (2014)
institution DOAJ
collection DOAJ
language EN
topic colorectal cancer
gene
iran
Medicine
R
spellingShingle colorectal cancer
gene
iran
Medicine
R
Farshid Javadi
Bita Geramizadeh
Mitra Mirzai
BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran
description Background Colorectal carcinoma is the third most commonly diagnosed cancer worldwide and many studies have focused on its molecular basis. BRAF V600E is the single most important mutation of this gene in cancers. It shows variable, but usually low, frequency in colorectal cancer, but is associated with distinct histologic, prognostic and molecular features. It is highly associated with MSI (microsatellite instability), CIMP-H (CpG island methylator phenotype), serrated pathway, poor prognosis and resistance to anti-EGFR (epidermal growth factor) drugs and interestingly absent in Lynch syndrome. Objectives In this study, we analyzed BRAF V600E mutation in colorectal cancer in Iranian patients. Patients and Methods One hundred patients with colorectal cancer, operated in hospitals affiliated to Shiraz University of medical Sciences (Faghihi and Namazi Hospital) were selected. The cases were chosen from the pathology files of the above mentioned hospitals, during 2011-2013. Genomic DNA were extracted from the paraffin blocks, by the DNP TM kit, amplified using conventional PCR and DNA sequenced using the automated sequencer (Sanger method). Results Patients were 21-87 years old (mean = 59.8), 45% female and 55% male. Thirty percent of the cases had right-sided and 70% left-sided cancer, of which 83% were well and 17% moderately differentiated. No BRAF V600E mutation was detected in these 100 cases. Conclusions The BRAF mutation is not common in colorectal cancer patients in the South of Iran. Our results are very similar to very few previous studies conducted in Iran, although we suggest further studies with larger numbers of patients to confirm these results.
format article
author Farshid Javadi
Bita Geramizadeh
Mitra Mirzai
author_facet Farshid Javadi
Bita Geramizadeh
Mitra Mirzai
author_sort Farshid Javadi
title BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran
title_short BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran
title_full BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran
title_fullStr BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran
title_full_unstemmed BRAF Gene Mutation Analysis in Colorectal Cancer in South of Iran
title_sort braf gene mutation analysis in colorectal cancer in south of iran
publisher Shiraz University of Medical Sciences
publishDate 2014
url https://doaj.org/article/72126fdc9bdd425fbf1c0d1a13891d68
work_keys_str_mv AT farshidjavadi brafgenemutationanalysisincolorectalcancerinsouthofiran
AT bitageramizadeh brafgenemutationanalysisincolorectalcancerinsouthofiran
AT mitramirzai brafgenemutationanalysisincolorectalcancerinsouthofiran
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