APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients

ConclusionsWe determined the detection rate of theAPC germline variant by phenotype and identifiedAPC mosaicism. Genetic testing of FAP patients is important because it can help with surgical decision-making, monitoring, and genetic counseling. Furthermore, genetic testing by NGS proved to be an effective method of detectingAPC germline variants.
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research