The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a Retrospective Cohort Study.

Background: 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 (/) genes act as key signal transducers inside the genomic integrity checkpoints. and gene mutations were reported in a few different types of cancers. In PCa, mutations were studied, but gene variations were not well investigated.

Objective: This study aimed to investigate the occurrence of variations in the and genes in PCa in the Jordanian population.

Methods: 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 and tumor suppressor genes.

Results: The presence of F281L (T/C) (1.4%) homologous missense point mutation in the kinase domain of the gene and P188P (1.4%) silent point mutation in the kinase domain of the gene. In addition, the 1100delC mutation was not detected in the studied PCa specimens.

Conclusion: In line with previous reports, the presence of 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 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 gene mutations and their role in the development of PCa in Jordan.