Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis  

作　　者：Giovanna Forte Valentina Grossi Filomena Cariola Antonia Lucia Buonadonna Paola Sanese Katia De Marco Candida Fasano Martina Lepore Signorile Vittoria Disciglio Cristiano Simone 

机构地区：[1]Medical Genetics,National Institute of Gastroenterology IRCCs"S.de Bellis"Research Hospital,Castellana Grotte,Bari 70013,Italy [2]Medical Genetics,Department of Precision and Regenerative Medicine and Jonic Area(DiMePRe-J),University of Bari Aldo Moro,Bari 70124,Italy

出　　处：《Genes & Diseases》2024年第6期12-15,共4页基因与疾病（英文）

摘　　要：Adenomatouspolyposis coli(APC)is akey tumor suppressor gene playing a central role in the Wnt signaling pathway throughβ-catenin down-regulation.1 APC germline pathogenic variants are associated with familial adenomatous polyposis(FAP),an autosomal dominant colorectal cancer(CRC)predisposition syndrome characterized by the development of hundreds to thousands of colorectal adenomatous polyps.

关 键 词：POLYPOSIS adenomatous FAMILIAL 

分 类 号：R73[医药卫生—肿瘤]