ABSTRACT
Aim: In present study we have elucidated the role of 2758 A>G [rs696], in the recognition site of miR449a in the 3' UTR of NFKB inhibitor alpha [NFKBIA] gene, in development of sporadic colorectal cancer
Background: Colorectal cancer [CRC] is rated as second cause of cancer death. Genetic determinants are considered as driving forces in development of sporadic CRC. Single nucleotide polymorphisms [SNPs], are attributed as the main genetic factor in cancers susceptibility. MicroRNAs, are key players in post-translational gene regulation by binding to their specific recognition sequences located at 3' untranslated region [UTR] of mRNAs
Methods: A case.control study using 143 CRC patients and 137 noncancerous counterparts were undertaken in order to determine rs696 genotypes using polymerase chain reaction. restriction fragment length polymorphism [PCR.RFLP] method
Results: There was a significant difference for the genotype frequencies of rs696 between patients and controls. The frequencies of GG, AG, AA genotypes in the control group were 38.7, 45.3, and 16.1 %, respectively, and the genotype frequencies in case group were 19.6, 40.6, and 39.9 %, respectively
Conclusion: Our results suggest significant correlation between rs696 polymorphism and colorectal cancer risk
ABSTRACT
Hereditary non-polyposis colorectal cancer [HNPCC] is a common hereditary cancer predisposing syndrome has molecular and clinicopathological features still have remained ambiguous within Iranian populations. We discuss in this article some molecular and clinicopathological features of the condition. The study was a descriptive retrospective and designed on 1659 colorectal cancer [CRC] patients were screened based on early-onset disease and Amsterdam II criteria during 14 years [2000-2013]. Immunohistochemistry [IHC] staining was set up to detect expression of mismatch repair [MMR] genes on paraffin-embedded tissue sections of 31 HNPCC-CRC tumors. SPSS 19 software was used to analyze the data. IHC-MMR staining was absent in 7/31 individuals [22.6%] of which 4 cases showed IHC-Absent [IHC-A] in both MSH2 and MSH6 [57.1%], in 2 cases both MLH1 and PMS2 had negative staining [28.6%], and just in one case, MSH6 was defective [14.3%]. The frequency of CRC among IHC-A and IHC-Present [IHC-P] families was 67.5% and 27.9%, respectively. Also the most frequent extracolonic cancers in IHC-A group were: stomach [10%], small bowel [5%], and prostate [5%]; and in IHC-P group: stomach [18.4%], lung [10.9%], and breast [7.5%]. Average age of IHC-A individuals at diagnosis was 38.0 versus 45.3 years in IHC-P individuals. Overall, 20.8% and 57.1% of our index CRCs were localized proximal to the splenic flexure in IHC-P and IHC-A groups, respectively. Given the lack of enough information about molecular aspects of hereditary cancer syndromes like HNPCC in Iran, more evaluations are necessary on larger samples using complementary techniques such as MSI-testing and mutation analyses
Subject(s)
Humans , Immunohistochemistry , DNA Mismatch Repair , Colorectal Neoplasms, Hereditary Nonpolyposis , Retrospective StudiesABSTRACT
Glucose-6-phosphate dehydrogenase [G6PD] deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The aim of this study was the molecular analysis of common G6PD mutations, including Mediterranean, Chatham, Cosenza and A-[G202A/A367G] in the patient with favism in Fars and Esfahan provinces. In this basic study, 96 non-relative patients with G6PD deficiency [34 from Fars and 62 from Esfahan province] were studied. Genomic DNA was analyzed by PCR-RFLP and product electrophoresis method for known mutations such as Mediterranean [C-T] nt, Chatham, Cosenza and A202 [G-A]/367 [A-G] mutation. Of 96 samples, 79 [82.3%] and 8 [8.3%] had G6PD Mediterranean and G6PD Chatham, respectively. None of the samples had Cosenza and A-[G202A/A367G] mutation. This study showed that G6PD Mediterranean is the most prevalent mutation in Iran