Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
Faranak GhadamyariMohammad Mehdi HeidariSirous ZeinaliMehri KhatamiShahin MeratHamideh BagherianLeili RejaliFarzaneh GhasemiPublished in: Journal of clinical laboratory analysis (2021)
Bioinformatics analysis and three-dimensional structural modeling predicted that these missense and nonsense mutations generally are associated with the deleted or truncated domains of APC and have functional importance and mainly affected the APC protein. These findings may provide evidence for the progress of potential biomarkers and help to understand the role of the APC gene in FAP.