{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T21:48:24Z","timestamp":1783633704084,"version":"3.55.0"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2001,12,24]],"date-time":"2001-12-24T00:00:00Z","timestamp":1009152000000},"content-version":"vor","delay-in-days":632,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2000,4]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant familial cancer syndrome characterized by tumours of the parathyroids, anterior pituitary gland and endocrine pancreas. Since the cloning of the <jats:italic>MEN1<\/jats:italic> gene (encoding menin) on chromosome 11q13 by Chandrasekharappa <jats:italic>et al<\/jats:italic>. in 1997, it has become possible to identify mutations that are responsible. We examined whether <jats:italic>MEN1<\/jats:italic> gene mutations are present in sporadic insulinomas, a rare sporadic tumour that is seen more frequently in patients with the MEN 1 syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>We sequenced the coding part of the <jats:italic>MEN1<\/jats:italic> gene (exons 2\u201310) in tumour tissue of 27 patients suffering from an insulinoma (24 benign, three malignant). To validate our methods we also examined tumour tissue from five patients with primary hyperparathyroidism (HPT) at a younger age and\/or multiple gland disease, with increased risk of MEN 1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found no mutations in the nine coding exons of the <jats:italic>MEN1<\/jats:italic> gene in the insulinoma tissues. We could confirm three benign polymorphisms (S145S, R171Q, D418D) reported previously. In the control patients we found two new point mutations (one mis\u2010sense, one non\u2010sense mutation) and one deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Mutations of the <jats:italic>MEN1<\/jats:italic> gene do not play an important role in the pathogenesis of sporadic insulinomas. Therefore genetic screening is not cost effective in sporadic insulinoma patients without other indicators of MEN 1. Patients with primary HPT at a younger age and\/or multiple gland disease should be screened for <jats:italic>MEN1<\/jats:italic> gene mutations.<\/jats:p><\/jats:sec>","DOI":"10.1046\/j.1365-2362.2000.00620.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T15:48:21Z","timestamp":1047397701000},"page":"325-329","source":"Crossref","is-referenced-by-count":46,"title":["Lack of <i>MEN1<\/i> gene mutations in 27 sporadic insulinomas"],"prefix":"10.1111","volume":"30","author":[{"family":"Cupisti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"H\u00f6ppner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Dotzenrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Berndt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"R\u00f6her","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Goretzki","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.1365-2362.2000.00620.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2362.2000.00620.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1046\/j.1365-2362.2000.00620.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,29]],"date-time":"2023-10-29T13:47:13Z","timestamp":1698587233000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1046\/j.1365-2362.2000.00620.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,4]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2000,4]]}},"alternative-id":["10.1046\/j.1365-2362.2000.00620.x"],"URL":"https:\/\/doi.org\/10.1046\/j.1365-2362.2000.00620.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":[[2000,4]]}}}