A novel STK11 gene mutation (c.388dupG,p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170  

作　　者：Giovanna Forte Filomena Cariola Katia De Marco Andrea Manghisi Filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio 

机构地区：[1]Medical Genetics,National Institute of Gastroenterology“S.de Bellis”Research Hospital,Castellana Grotte,Bari 70013,Italy [2]Histopathology Unit,National Institute of Gastroenterology“S.de Bellis,”Research Hospital,Castellana Grotte,Bari 70013,Italy [3]Department of General Surgery,National Institute of Gastroenterology“S.de Bellis”Research Hospital,Castellana Grotte,Bari 70013,Italy [4]Gastroenterology and Digestive Endoscopy Unit,National Institute of Gastroenterology“S.de Bellis”Research Hospital,Castellana Grotte,Bari 70013,Italy [5]Department of Biomedical Sciences and Human Oncology(DIMO),Medical Genetics,University of Bari Aldo Moro,Piazza Umberto I,Bari 70124,Italy

出　　处：《Genes & Diseases》2022年第2期288-291,共4页基因与疾病（英文）

基　　金：This work was supported by the Italian Association for Cancer Research(IG grant N.23794 to C.S.),by the Italian Ministry of Health“Ricerca Corrente 2018e2020;2019e2021”to C.S.,and by the Italian Ministry of Education,University and Research(MIUR)“PRIN-Research Projects of National Relevance”(PRIN 2017,N.2017WNKSLRLS4)to C.

摘　　要：Peutz-Jeghers syndrome(PJS)is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal(GI)hamartomatous polyposis and is associated with an increased risk of gastrointestinal,breast,gynecologic and other extra-GI malignancies.The serine/threonine kinase 11(STK11)gene has been identi-fied as a pathogenic factor in PJS.STK11 is a tumor sup-pressor gene located on chromosome 19p13.3 and includes 9 coding exons.1 The STK11 protein is composed of 433 amino acids(aa)and comprises a kinase catalytic region(aa 49e309)as well as N-and C-terminal regulatory domains.

关 键 词：STK11 Jeghers alterations 

分 类 号：R735.2[医药卫生—肿瘤]