{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T23:54:51Z","timestamp":1793922891929,"version":"4.8.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["739547"],"award-info":[{"award-number":["739547"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["POCI-01-0145-FEDER-016390"],"award-info":[{"award-number":["POCI-01-0145-FEDER-016390"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PTDC\/BTM-TEC\/30164\/2017"],"award-info":[{"award-number":["PTDC\/BTM-TEC\/30164\/2017"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020616","name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar, Universidade do Porto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020616","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011307","name":"Association for Molecular Pathology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011307","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022286","name":"AMP Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022286","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["POCI-01-0145-FEDER-007274"],"award-info":[{"award-number":["POCI-01-0145-FEDER-007274"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006752","name":"Universidade do Porto","doi-asserted-by":"publisher","award":["2020.05773"],"award-info":[{"award-number":["2020.05773"]}],"id":[{"id":"10.13039\/501100006752","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1016\/j.ejmg.2021.104316","type":"journal-article","created":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T00:01:20Z","timestamp":1629504080000},"page":"104316","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"title":["Cancer predisposition and germline CTNNA1 variants"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5705-2958","authenticated-orcid":false,"given":"Silvana","family":"Lobo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1003-1997","authenticated-orcid":false,"given":"Patrick R.","family":"Benusiglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Coulet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Boussemart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Golmard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Spier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"H\u00fcneburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5228-1890","authenticated-orcid":false,"given":"Stefan","family":"Aretz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystelle","family":"Colas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8340-2264","authenticated-orcid":false,"given":"Carla","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ejmg.2021.104316_bib1","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1007\/s10120-018-00907-7","article-title":"Clinical implications of CTNNA1 germline mutations in asymptomatic carriers","volume":"22","author":"Benusiglio","year":"2019","journal-title":"Gastric Cancer"},{"issue":"8","key":"10.1016\/j.ejmg.2021.104316_bib2","doi-asserted-by":"crossref","first-page":"e386","DOI":"10.1016\/S1470-2045(20)30219-9","article-title":"Hereditary diffuse gastric cancer: updated clinical practice guidelines","volume":"21","author":"Blair","year":"2020","journal-title":"Lancet Oncol."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104316_bib3","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","article-title":"Prediction of human mRNA donor and acceptor sites from the DNA sequence","volume":"220","author":"Brunak","year":"1991","journal-title":"J. Mol. Biol."},{"issue":"12","key":"10.1016\/j.ejmg.2021.104316_bib4","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jmg.36.12.873","article-title":"Familial gastric cancer: overview and guidelines for management","volume":"36","author":"Caldas","year":"1999","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104316_bib5","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/s41436-020-0753-1","article-title":"Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer","volume":"22","author":"Clark","year":"2020","journal-title":"Genet. Med."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104316_bib6","first-page":"489","article-title":"Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. The lancet","volume":"3","author":"Fewings","year":"2018","journal-title":"Gastroenterol. Hepatol."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104316_bib7","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1136\/jmg.2009.074237","article-title":"Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research","volume":"47","author":"Fitzgerald","year":"2010","journal-title":"J. Med. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104316_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004669","article-title":"Germline mutations in MAP3K6 are associated with familial gastric cancer","volume":"10","author":"Gaston","year":"2014","journal-title":"PLoS Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104316_bib9","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1001\/jamaoncol.2014.168","article-title":"Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond","volume":"1","author":"Hansford","year":"2015","journal-title":"JAMA Oncol"},{"issue":"7","key":"10.1016\/j.ejmg.2021.104316_bib10","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1038\/nrm2927","article-title":"Adherens junctions: from molecules to morphogenesis","volume":"11","author":"Harris","year":"2010","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"17","key":"10.1016\/j.ejmg.2021.104316_bib11","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res."},{"issue":"30","key":"10.1016\/j.ejmg.2021.104316_bib12","doi-asserted-by":"crossref","first-page":"4255","DOI":"10.1038\/onc.2008.62","article-title":"The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers","volume":"27","author":"Karam","year":"2008","journal-title":"Oncogene"},{"issue":"10","key":"10.1016\/j.ejmg.2021.104316_bib13","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/sj.ejhg.5201649","article-title":"Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease","volume":"14","author":"Khajavi","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2021.104316_bib14","doi-asserted-by":"crossref","DOI":"10.1038\/nrm1433","article-title":"Alpha-catenin: at the junction of intercellular adhesion and actin dynamics","author":"Kobielak","year":"2004","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104316_bib15","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a003012","article-title":"A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay","volume":"4","author":"Krempely","year":"2018","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"11","key":"10.1016\/j.ejmg.2021.104316_bib16","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1002\/humu.23650","article-title":"Specifications of the ACMG\/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants","volume":"39","author":"Lee","year":"2018","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104316_bib17","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/path.4152","article-title":"An alpha-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer","volume":"229","author":"Majewski","year":"2013","journal-title":"J. Pathol."},{"issue":"9","key":"10.1016\/j.ejmg.2021.104316_bib18","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1093\/hmg\/ddp046","article-title":"Germline CDH1 deletions in hereditary diffuse gastric cancer families","volume":"18","author":"Oliveira","year":"2009","journal-title":"Hum. Mol. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104316_bib19","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1053\/gast.2001.29611","article-title":"Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families","volume":"121","author":"Pharoah","year":"2001","journal-title":"Gastroenterology"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104316_bib20","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"9","key":"10.1016\/j.ejmg.2021.104316_bib21","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1001\/jamaoncol.2019.1208","article-title":"Comparison of CDH1 penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers","volume":"5","author":"Roberts","year":"2019","journal-title":"JAMA Oncol"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104316_bib22","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/ng.3474","article-title":"Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity","volume":"48","author":"Saksens","year":"2016","journal-title":"Nat. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104316_bib23","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1038\/gim.2015.212","article-title":"Improving performance of multigene panels for genomic analysis of cancer predisposition","volume":"18","author":"Shirts","year":"2016","journal-title":"Genet. Med."},{"issue":"15","key":"10.1016\/j.ejmg.2021.104316_bib24","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.4161\/cc.29765","article-title":"alpha-catenin. A tumor suppressor beyond adherens junctions","volume":"13","author":"Sun","year":"2014","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ejmg.2021.104316_bib25","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.ceb.2018.02.014","article-title":"Multiple functions of alpha-catenin beyond cell adhesion regulation","volume":"54","author":"Takeichi","year":"2018","journal-title":"Curr. Opin. Cell Biol."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104316_bib26","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10689-019-00127-7","article-title":"Hereditary gastric cancer: what's new? Update 2013-2018","volume":"18","author":"van der Post","year":"2019","journal-title":"Fam. Cancer"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104316_bib27","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.gie.2017.04.016","article-title":"Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria","volume":"87","author":"van der Post","year":"2018","journal-title":"Gastrointest. Endosc."},{"key":"10.1016\/j.ejmg.2021.104316_bib28","first-page":"138","article-title":"Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea","volume":"9","author":"van Lith-Verhoeven","year":"2003","journal-title":"Mol. Vis."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104316_bib29","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmedgenet-2017-104962","article-title":"Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility","volume":"55","author":"Weren","year":"2018","journal-title":"J. Med. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2021.104316_bib30","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1136\/jmedgenet-2019-105991","article-title":"Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria","volume":"56","author":"Xicola","year":"2019","journal-title":"J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001828?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001828?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:51:38Z","timestamp":1761709898000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221001828"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["S1769721221001828"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104316","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cancer predisposition and germline CTNNA1 variants","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104316","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104316"}}