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Abstract：
UNASSIGNED: Prostate cancer (PCa) is one of the most common types of cancer among men. Mutations and accumulation of chromosomal deviations are correlated with the development and aggressiveness of PCa. Cell cycle checkpoint pathways and DNA repair mechanisms are reported to deviate in cancers. Mammalian checkpoint kinase 1/2 (CHEK1/CHEK2) genes act as key signal transducers inside the genomic integrity checkpoints. CHEK1 and CHEK2 gene mutations were reported in a few different types of cancers. In PCa, CHEK2 mutations were studied, but CHEK1 gene variations were not well investigated.
UNASSIGNED: This study aimed to investigate the occurrence of variations in the CHEK1 and CHEK2 genes in PCa in the Jordanian population.
UNASSIGNED: Formalin-fixed paraffin-embedded PCa specimens of radical prostatectomy surgical procedures from 74 Jordanian patients were subjected to DNA extraction, polymerase chain reactions and Sanger sequencing to screen the mutations in selected exons of CHEK1 and CHEK2 tumor suppressor genes.
UNASSIGNED: The presence of F281L (T/C) (1.4%) homologous missense point mutation in the kinase domain of the CHEK2 gene and P188P (1.4%) silent point mutation in the kinase domain of the CHEK1 gene. In addition, the 1100delC mutation was not detected in the studied PCa specimens.
UNASSIGNED: In line with previous reports, the presence of CHEK2 mutation with a frequency of 1.4% supported the possible role of genetic variants of this gene in the development of PCa. No 1100delC mutation was detected in this study. No association was found in this study between CHEK1 mutations and the development of PCa. Further studies are needed with larger cohorts along with a screening of more exons in order to shed more light on the frequency of CHEK2 gene mutations and their role in the development of PCa in Jordan.
UNASSIGNED: This study aimed to investigate the occurrence of variations in the CHEK1 and CHEK2 genes in PCa in the Jordanian population.
UNASSIGNED: Formalin-fixed paraffin-embedded PCa specimens of radical prostatectomy surgical procedures from 74 Jordanian patients were subjected to DNA extraction, polymerase chain reactions and Sanger sequencing to screen the mutations in selected exons of CHEK1 and CHEK2 tumor suppressor genes.
UNASSIGNED: The presence of F281L (T/C) (1.4%) homologous missense point mutation in the kinase domain of the CHEK2 gene and P188P (1.4%) silent point mutation in the kinase domain of the CHEK1 gene. In addition, the 1100delC mutation was not detected in the studied PCa specimens.
UNASSIGNED: In line with previous reports, the presence of CHEK2 mutation with a frequency of 1.4% supported the possible role of genetic variants of this gene in the development of PCa. No 1100delC mutation was detected in this study. No association was found in this study between CHEK1 mutations and the development of PCa. Further studies are needed with larger cohorts along with a screening of more exons in order to shed more light on the frequency of CHEK2 gene mutations and their role in the development of PCa in Jordan.
摘要：
未经证实：前列腺癌（PCa）是男性中最常见的癌症类型之一。染色体偏差的突变和积累与PCa的发展和侵袭性相关。据报道，癌症中细胞周期检查点途径和DNA修复机制存在偏差。哺乳动物检查点激酶1/2(CHEK1/CHEK2)基因充当基因组完整性检查点内的关键信号转导子。在几种不同类型的癌症中报道了CHEK1和CHEK2基因突变。在PCa中,CHEK2突变进行了研究，但是CHEK1基因变异没有得到很好的研究。
UNASSIGNED：本研究旨在调查约旦人群PCa中CHEK1和CHEK2基因变异的发生情况。
UNASSIGNED：对来自74名约旦患者的前列腺癌根治术的福尔马林固定石蜡包埋PCa标本进行DNA提取，聚合酶链反应和Sanger测序以筛选CHEK1和CHEK2肿瘤抑制基因的选定外显子中的突变。
UNASSIGNED：在CHEK2基因的激酶结构域中存在F281L（T/C）（1.4％）同源错义点突变，在CHEK1基因的激酶结构域中存在P188P（1.4％）沉默点突变。此外,在研究的PCa标本中未检测到1100delC突变.
未经评估：与以前的报告一致，频率为1.4%的CHEK2突变的存在支持了该基因的遗传变异在PCa发展中的可能作用.本研究未检测到1100delC突变。在这项研究中没有发现CHEK1突变与PCa发展之间的关联。需要对更大的队列进行进一步的研究，同时筛选更多的外显子，以便更多地了解CHEK2基因突变的频率及其在约旦PCa发展中的作用。
UNASSIGNED：本研究旨在调查约旦人群PCa中CHEK1和CHEK2基因变异的发生情况。
UNASSIGNED：对来自74名约旦患者的前列腺癌根治术的福尔马林固定石蜡包埋PCa标本进行DNA提取，聚合酶链反应和Sanger测序以筛选CHEK1和CHEK2肿瘤抑制基因的选定外显子中的突变。
UNASSIGNED：在CHEK2基因的激酶结构域中存在F281L（T/C）（1.4％）同源错义点突变，在CHEK1基因的激酶结构域中存在P188P（1.4％）沉默点突变。此外,在研究的PCa标本中未检测到1100delC突变.
未经评估：与以前的报告一致，频率为1.4%的CHEK2突变的存在支持了该基因的遗传变异在PCa发展中的可能作用.本研究未检测到1100delC突变。在这项研究中没有发现CHEK1突变与PCa发展之间的关联。需要对更大的队列进行进一步的研究，同时筛选更多的外显子，以便更多地了解CHEK2基因突变的频率及其在约旦PCa发展中的作用。
