Homami Ameneh, Ataei Kachoei Zohreh, Asgarie Mojgan, Ghazi Farideh
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Department of Medical Pathology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Med J Islam Repub Iran. 2020 Aug 28;34:108. doi: 10.34171/mjiri.34.108. eCollection 2020.
Bladder cancer is the most frequent malignancy that affects the urinary tract. Studies have shown different types of FGFR3 and HRAS genes mutations in human bladder cancer, with a comprehensive range of mutation number in various populations. This study aimed to determine the specific point mutations of these 2 genes among Iranian patients with bladder cancer. In this study, 100 specimens of patients with transitional cell carcinoma were analyzed. All samples were examined for FGFR3 and HRAS mutations using PCR and direct DNA sequencing methods. A total of 9 pathogenic mutations and 9 polymorphisms were found in 2 exons (7 and 15) of the FGFR3 genes in patients with bladder cancer (S249Y, I633I, L645L, D646E, Y647*, D628V, P250T, Q263H, Y305H). However, no mutation was found in exon 10 of FGFR3 and exon 1 of HRAS genes. In this study, 5 mutations were found in FGFR3 gene that have not been detected previously. There was no mutation in exon 10 of FGFR3 and exon1 of HRAS. The results of this study confirmed the association of ethnic-genetic factors in the occurrence of bladder cancer, so that these variables may not be present in all ethnic groups.
膀胱癌是影响尿路的最常见恶性肿瘤。研究表明，人类膀胱癌中存在不同类型的FGFR3和HRAS基因突变，不同人群中的突变数量范围广泛。本研究旨在确定伊朗膀胱癌患者中这两个基因的特定点突变。在本研究中，对100例移行细胞癌患者的标本进行了分析。使用PCR和直接DNA测序方法对所有样本进行FGFR3和HRAS突变检测。在膀胱癌患者的FGFR3基因的2个外显子（7和15）中总共发现了9个致病突变和9个多态性（S249Y、I633I、L645L、D646E、Y647*、D628V、P250T、Q263H、Y305H）。然而，在FGFR3基因的第10外显子和HRAS基因的第1外显子中未发现突变。在本研究中，在FGFR3基因中发现了5个以前未检测到的突变。FGFR3基因的第10外显子和HRAS基因的第1外显子均无突变。本研究结果证实了种族遗传因素与膀胱癌发生之间的关联，因此这些变量可能并非在所有种族群体中都存在。
