A novel STK11 gene mutation (c.388dupG,***130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170
作者机构：Medical GeneticsNational Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Histopathology UnitNational Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Department of General SurgeryNational Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Gastroenterology and Digestive Endoscopy UnitNational Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Department of Biomedical Sciences and Human Oncology(DIMO)Medical GeneticsUniversity of Bari Aldo MoroPiazza Umberto IBari 70124Italy
出 版 物：《Genes & Diseases》 (基因与疾病（英文）)
年 卷 期：2022年第9卷第2期
页 面：288-291页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
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
主 题：STK11 Jeghers alterations
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 *** serine/threonine kinase 11(STK11)gene has been identi-fied as a pathogenic factor in ***11 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.
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