{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T03:24:20Z","timestamp":1791170660196,"version":"4.1.0"},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2001,12,24]],"date-time":"2001-12-24T00:00:00Z","timestamp":1009152000000},"content-version":"vor","delay-in-days":571,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2000,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal, dominantly inherited cancer syndrome, with tumours in various endocrine glands. In 1997 the responsible tumour suppressor gene was identified. MEN1 gene germ\u2010line mutations are detected in the vast majority of MEN 1 patients, however, with regard to case\u2010finding, unfortunately only at a very low frequency in patients with apparently sporadic MEN 1\u2010related tumours. In order to increase the detection rate of disease gene carriers among patients with apparently sporadic MEN 1\u2010related tumours, clinical criteria were needed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and Results<\/jats:title><jats:p>In this study MEN1 gene germ\u2010line mutations were revealed in 16\/16 MEN 1 patients\/families (100%). Based on our clinical experience with MEN 1 patients\/families we formulated clinical criteria to identify disease gene carriers among patients with apparently sporadic MEN 1\u2010related tumours. The criteria for MEN 1\u2010suspected patients are: young age at onset (&lt;\u200335 years) and\/or multiple MEN 1\u2010related lesions in a single organ or two distinct organs affected. Application of these criteria yielded MEN1 gene germ\u2010line mutations in nine of 15 MEN 1\u2010suspected patients (60%), thus identifying novel MEN 1 families. Follow up was also guaranteed for patients not fulfilling these criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The clinical criteria for MEN 1\u2010suspected patients increase the detection rate of germ\u2010line MEN1 gene mutations among patients with apparently sporadic MEN 1\u2010related tumours. These criteria may be used for (presymptomatic) identification of MEN 1 disease gene\u2010carriers, thus enabling early detection of tumour development and timely treatment, as well as genetic counselling.<\/jats:p><\/jats:sec>","DOI":"10.1046\/j.1365-2362.2000.00664.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T15:48:55Z","timestamp":1047397735000},"page":"487-492","source":"Crossref","is-referenced-by-count":32,"title":["Criteria for mutation analysis in MEN 1\u2010suspected patients: MEN 1 case\u2010finding"],"prefix":"10.1111","volume":"30","author":[{"family":"Roijers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"De Wit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Van Der Luijt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Ploos van Amstel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"H\u00f6ppener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Lips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,12,24]]},"container-title":["European Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2362.2000.00664.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2362.2000.00664.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1046\/j.1365-2362.2000.00664.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,29]],"date-time":"2023-10-29T11:15:57Z","timestamp":1698578157000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1046\/j.1365-2362.2000.00664.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,6]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2000,6]]}},"alternative-id":["10.1046\/j.1365-2362.2000.00664.x"],"URL":"https:\/\/doi.org\/10.1046\/j.1365-2362.2000.00664.x","archive":["Portico"],"relation":{},"ISSN":["0014-2972","1365-2362"],"issn-type":[{"value":"0014-2972","type":"print"},{"value":"1365-2362","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,6]]}}}