Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy

ABSTRACT:

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 identi

SUBMITTER: Mahasneh A 

PROVIDER: S-EPMC6800538 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature