Abstract 4655: Association of a new germline variant in the MUTYH DNA glycosylase gene with colorectal adenoma transformation into malignancy

Background: Germline mutations in mutY homolog (E.coli) (MUTYH)DNA glycosylase gene have been associated with recessive inheritance of multiple s adenoma. Several studies revealed that germline mutations in this gene are ethnicity related. This study aimed to identify the germ-line mutations in MUTYH gene and determine their prevalence among Jordanian patients with colorectal adenoma. Methods: 150 colorectal adenoma patients and 150cancer free individuals with no previous history of polyps were recruited. Sanger DNA sequencing of the MUTYH genewas carried out using 3130xL Genetic Analyzer. Sequencing results were analyzed by ChromasPro and mutational effects were predicted by online bioinformatics tools(accession number for the transcript used as reference isNG_008189.1). Results: Two novel variants, g.87C>T and c.1264G>C, have been identified. G.87C>T was found in 60 (40%) patients and 10 (6.7%) controls.C.1264G>C was found in 90 (60%) patients and 7 (4.7%) controls. Thus, a significant association between g.87C>T and c.1264G>C variants and colorectal adenoma was found (p value for both variants was C, was found to be significantly associated with colorectal adenoma transformation into malignancy (p 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. Citation Format: Amjad A. Mahasneh, Fawaz Al-Shaheri, Mohamemd N. Banihani. Association of a new germline variant in the MUTYH DNA glycosylase gene with colorectal adenoma transformation into malignancy [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 4655.