Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients.

ABSTRACT: Background and objectives: Familial adenomatous polyposis is one of the APC-associated polyposis conditions described as genetically predetermined colorectal polyposis syndrome with a variety of symptoms. The purpose of this study was to determine sequence variants of the APC gene in patients with familial adenomatous polyposis (FAP) phenotype and positive or negative family history. Materials and Methods: Eight families with defined criteria of adenomatous polyposis underwent molecular genetic testing. Coding regions and flanking intron regions of the APC gene were analyzed by Sanger sequencing. Results: Eight allelic variants of the APC gene coding sequence were detected. All allelic variants of the APC gene were predicted to be pathogenic based on criteria according to the "Joint Consen

SUBMITTER: Daneberga Z 

PROVIDER: S-EPMC6843383 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature