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Evaluation of frequency of kirsten rat sarcoma gene mutations in Iranian colorectal cancer
Fatemeh Roudbari, Behzad Poopak, Fatemeh Sheikhsofla, Mojtaba Ghadiani,
Volume 74, Issue 6 (9-2016)
Abstract

Background: Kirsten rat sarcoma (KRAS) gene is a target of genetic alterations which are diagnostic and prognostic biomarkers in patients with metastatic colorectal cancer who are treated with monoclonal anti-EGFR antibodies such as cetuximab and panitumumab. KRAS mutations are seen in 35-42% of patients with colorectal cancer. The high frequency of these mutations in colorectal cancer represents their high potential as a biomarker in early diagnosis of cancer. This study was done to evaluate the frequency of KRAS gene mutations in a small population of Iranian patients suffering from colorectal cancer.  

Methods: 50 formalin-fixed paraffin-embedded tissue blocks with colorectal cancer (CRC), already confirmed by histopathology and immunohistochemistry testing, were received to Payvand Clinical and Specialty Laboratory, Tehran, from across the country in 2015. DNA was extracted from the tissue blocks and its quality was then evaluated. The reverse dot blotting method was used to evaluate KRAS gene mutations.

Results: KRAS mutations were found in 42% of the study patients. 30% and 12% of the mutations were found in codon 12 and codon 13, respectively. Moreover, no mutation was found in codon 61. Results also showed that the most frequency of samples examined belonged to male with 68% (average age of 56 years old) and then to female with 32% (median age of 54.8 years old).

Conclusion: This study was performed to evaluate the frequency of KRAS gene mutations in Iranian colorectal cancer patients. According to the study results, the frequency of KRAS mutations was consistent with that of other countries, reported in previous studies. The high prevalence of these mutations in patients with colorectal cancer indicates the important role of these genes in this group of patients. Thus, the presence of these mutations can be used as a suitable biomarker for evaluation of response to targeted therapies in patients suffering from colorectal cancer.


Common mutations assay of KRAS and BRAF genes in patients affected with Head and neck squamous cell carcinoma (HNSCC)
Razieh Zarifian Yeganeh , Abbas Shakoori Garakani , Saman Mehrabi , Nader Ebadi, Maziar Motiee Langroudi , Mohammad Reza Noori Daloii,
Volume 75, Issue 7 (10-2017)
Abstract
Background: Head and neck squamous cell carcinoma (HNSCC) is the malignancy of squamous cells (the epidermal layer of skin) in cavities in head and neck includes: larynx, pharynx, paranasal sinuses and oral cavity. The main goal of this research was to understand the effect of mutations in two important genes (KRAS and BRAF) in RAS/MAP kinase (EGFR) signaling pathway in tumor cells with head and neck squamous cell carcinoma in Iran.
Methods: The present cross-sectional study performed from October 2015 to September 2016 on 40 patients suffering from head and neck squamous cell carcinoma, all confirmed by pathology department of Imam Khomeini hospital. Tumor samples were achieved from the surgical cancer department of Imam Khomeini hospital and stored in liquid nitrogen until starting tests. The tests done in genetic laboratory of Tehran University of Medical Sciences. Techniques we used in this research, were DNA extraction based on phenol-chloroform approach, Multiplex PCR (M-PCR) to amplify mentioned exons and KRAS/BRAF strip assays to detect mutations in mutated hotspots in exon 2 of KRAS and codon V600E in BRAF gene.
Results: In this study, we observed 7 mutations in codons 12 and 13 exon 2 in KRAS gene (about 17.5%) and 4 mutations in codon V600E in BRAF gene (about 10%) of obtained tumor samples. The hotspot mutation in codon 12 were Asp (10%) and Ser (5%) respectively. In BRAF, the most common mutation, as we expected according to other researches, was observed in codon V600E. We also observed that 29 people of these patients were male (about 72.5%) and 11 patients were female (about 27.5%). Moreover, 28 patients were over 50 years, while 7 patients were below the age of 50.
Conclusion: The results of this study showed that mutations in genes KRAS and BRAF especially in studied hotspots, and the effects on their molecules in EGFR signaling pathway are important in involving head and neck squamous cell carcinoma, as other cancers. These findings may be considered in choosing drugs for targeted chemotherapy.

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