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Background: MUTYH DNA glycosylase germline mutations are linked to the recessive inheritance of multiple adenoma. Studies have revealed that germline mutations in this gene are ethnicity related. This study aimed to identify the germline mutations in MUTYH gene and determine their prevalence among Jordanian patients with colorectal adenoma. Methods: In this study, 150 colorectal adenoma patients and 150 cancer-free individuals with no previous history of polyps were recruited. Sanger DNA sequencing of the MUTYH gene (accession number NG_008189.1) was carried out using 3130xL Genetic Analyzer. Sequencing results were analyzed by ChromasPro, and mutational effects were predicted by online bioinformatics tools. Results: Two novel variants, g.87C>T and c.1264G>C, were identified. g.87C>T was also found in 60 (40%) patients and 10 (6.7%) controls. However, c.1264G>C was detected in 90 (60%) patients and 7 (4.7%) controls. Thus, a significant association was observed between these two variants and colorectal adenoma (p value for both variants was <0.0001). Moreover, the newly identified germline variant, c.1264G>C, was found to be significantly associated with colorectal adenoma transformation into malignancy (p < 0.0001). Conclusion: The data showed high prevalence of two germline mutations in MUTYH gene among Jordanians with colorectal adenoma, which may make them as potential early biomarkers for diagnosis of colorectal adenoma. 

Keywords: Colorectal Adenoma, Germline mutations, MUTYH gene

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