Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome  

作　　者：Noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle 

机构地区：[1]Hereditary Cancer Program,Catalan Institute of Oncology,Oncobell Program,IDIBELL,Hospitalet de Llobregat,Barcelona 08908,Spain [2]Department of Immunology and Oncology,National Center for Biotechnology,Spanish National Research Council (CNB-CSIC),Madrid 28049,Spain [3]Centro de Investigación Biomédica en Red de Cáncer (CIBERONC),Madrid 28029,Spain [4]Catalan Institute of Oncology,IDIBGi,Girona 17007,Spain [5]Division of Clinical Cancer Genomics,Department of Medical Oncology & Therapeutic Research,City of Hope National Cancer Center,Duarte,CA 91010,USA

出　　处：《Genes & Diseases》2024年第2期524-527,共4页基因与疾病（英文）

基　　金：funded by the Spanish Ministry of Science and Innovation(Agencia Estatal de Investigacion),co-funded by FEDER funds-a way to build Europe-[PID2020-112595RB-I00(LV)];Instituto de Salud Carlos Ⅲ(CIBERONC CB16/12/00234);Government of Catalonia(AGAUR 2021SGR01112,CERCA Program for institutional support);Marie Sktodowska-Curie Individual Fellow ship(No.897064(NG-A));Scientific Foundation"Asociacion Espanola Contra el Cancer"[AECC Investigador contract(MT)].

摘　　要：Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTEN tumor suppressive function,have been proposed as an alternative mechanism of PTEN inactivation in PTEN-hamartoma-tumor syndrome(PHTS)-like patients with wildtype PTEN.1 More specifically,heterozygous,potentially activating wwP1 variants were first identified by Lee et al in patients affected with gastrointestinal oligopolyposis,including adenomatous,hyperplastic/serrated,and hamartomatous polyps,and occasionally with colorectal cancer(Table 1).Subsequently,based on the PHTS phenotypic features,wWP1 mutational screening was performed in patients with thyroid nodules,2 or normocephalic autism spectrum disorder(ASD),3 where germline WWP1 variants were also identified(Table S1).

关 键 词：WWP1 gastrointestinal POLYPOSIS 

分 类 号：R735[医药卫生—肿瘤]