Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes  

作　　者：Giovanna Forte Filomena Cariola Antonia Lucia Buonadonna Anna Filomena Guglielmi Andrea Manghisi Katia De Marco Valentina Grossi Candida Fasano Martina Lepore Signorile Paola Sanese Rosanna Bagnulo Nicoletta Resta b Vittoria Disciglio Cristiano Simone 

机构地区：[1]Medical Genetics,National Institute of Gastroenterology“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》2023年第4期1187-1189,共3页基因与疾病（英文）

基　　金：funded by the research funding program“Ricerca Corrente 2019e2021,2021-2023”to Cristiano Simone,“Ricerca Corrente 2022-2024”to Vittoria Disciglio,“Ricerca Corrente 2022-2024”to Candida Fasano,AIRC fellowship for Italy“ID.26678-2021”to Martina Lepore Signorile,“Starting Grant”SG-2019-12371540 to Paola Sanese from the Italian Ministry of Health and the 2017 PRIN(Research Projects of National Relevance)n.2017WNKSLr-LS4 from the Italian MIUR to Cristiano Simone.

摘　　要：Familial adenomatous polyposis(FAP)and MUTYH-associ-ated polyposis(MAP)are colon cancer predisposition syn-dromes.FAP is an autosomal dominant inherited condition caused by germline mutations in the adenomatous polyposis coli(APC)gene and characterized by hundreds to thousands of colorectal adenomas.

关 键 词：POLYPOSIS adenomatous COLON 

分 类 号：R73[医药卫生—肿瘤]