AXIN2-Associated Adenomatous Colorectal Polyposis

Abstract Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ∼ 3% to 6% all CRCs are related inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The coli (APC) mutY DNA glycosylase (MUTYH) germline mutations the main genetic causes polyposis. Nevertheless, in many these genes have not been identified. aim present case report is describe a rare associated with axis inhibition protein 2 (AXIN2) gene. Case Report first colonoscopy screening 61-year-old male patient no known family history CRC revealed 50 polyps. A histological evaluation resected polyps showed low-grade tubular adenomas. Germline testing through multigene panel for predisposition syndromes pathogenic variant AXIN2 In addition polyposis, had mild features ectodermal dysplasia: hypodontia, scant body hair, onychodystrophy. Discussion gene acts negative regulator Wnt/β -catenin signaling pathway, which participates development processes cellular homeostasis. Further studies needed support surveillance recommendations carriers variant.