Frequency of NRAS gene mutation in wild type KRAS and BRAF colorectal cancers; a single center study

Background: Incidence of colorectal cancer is increasing in countries such as Iran. Molecular biomarkers play very important role in the diagnosis, treatment, and prognosis of this cancer. Mutation in the RAS family [including KRAS and NRAS] is one of these important molecular biomarkers, which should be tested before starting treatment with anti-EGRF [Epidermal growth factor] drugs

Objectives: There has been very few reports about the frequency of NRAS mutation from Iran and no study from south of the country. In this article we will describe our experience about the frequency of NRAS mutation in colorectal cancers from the largest referral center in the south of Iran

Methods: During 5 years [2011-2015], we had 52 cases of colorectal cancers with wild type KRAS and BRAF in the hospitals affiliated to Shiraz University of Medical Sciences with enough tissue for molecular studies. NRAS mutation analysis was performed on paraffin embedded formalin fixed tissue of these cases by polymerase chain reaction [PCR]-sequencing method

Results: Among these 52 cases of colorectal cancer with wild type KRAS and BRAF, there has been 3 [5.7%] cases with mutant NRAS. One of the mutations has been in codon 12 and two in codon 61. No mutation in codon 13 was found. All the three cases were women with stage IV and well differentiated histomorphology

Conclusion: Our results showed that frequency of NRAS mutation in colorectal cancer is rare, which is very close to other studies from different geographic areas of the world

K-ras mutation in colorectal cancer, a report from southern Iran

There are very few studies about K-ras mutations in colorectal cancer [CRC] from developing countries such as Iran. It is therefore essential to conduct studies to learn about the molecular signature of such tumors, allowing the determination of an appropriate management plan. In the present study, we aimed to determine the frequency and types of K-ras mutations among patients with CRC in Iran. Formalin-fixed paraffin-embedde

Low incidence of alpha-1 antitrypsin deficiency among babies with prolonged jaundice

alpha-1 antitrypsin [AAT] deficiency is one of the most important genetic causes of childhood liver diseases in some parts of the world, but its geographic distribution is highly variable. There are many reports from Asian countries such as India, the Philippines, and China which show a very low incidence of this disease. However few studies exist from Iran regarding this genetic deficiency as the cause for prolonged neonatal jaundice. In this study we attempt to investigate the possible role of AAT deficiency as a cause of prolonged neonatal jaundice in the largest pediatric referral center of Southern Iran. We included 126 neonates with the clinical diagnosis of neonatal cholestasis in this study. Polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] was performed on the extracted DNA from their blood samples. DNA sequencing confirmed the results of the PCR-RFLP tests. All patients were genetically normal regarding level of AAT, i.e., all were MM homozygotes. AAT deficiency is a rare disease in Iran and is not a major cause of neonatal cholestasis in this country