{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T04:17:40Z","timestamp":1792210660759,"version":"4.4.0"},"reference-count":39,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim of this work was to facilitate interpretation of variants and improve the genetic counseling and medical care of families of patients with MEN1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design, Setting, and Patients<\/jats:title>\n                    <jats:p>The TENGEN network (Oncogenetics Network of Neuroendocrine Tumors) has interpreted and collected all allelic variants and clinical characteristics of the MEN1-positive patients identified through genetic testing performed in the French population from 1997 to 2015. Patients and their variants were registered in the locus-specific UMD-MEN1 database (www.umd.be\/MEN1\/).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcomes<\/jats:title>\n                    <jats:p>Variant classification, age-related penetrance, and odds ratios.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 370 distinct variants reported in 1676 patients, including 181 unpublished variants, have been registered. This database analysis revealed a low frequency (6.6%) of benign or likely benign missense variants in MEN1. Eight families (1.9%) had members with familial isolated hyperparathyroidism and harbored the same mutations as that found in families with authentic MEN1. An association existed between large rearrangements and an earlier onset of the disease, whereas no difference was observed between truncating and nontruncating variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The UMD-MEN1 database provides an exhaustive overview of the MEN1 variants present in the French population. For each variant, a classification is publicly available. Clinical data collections allow the determination of genotype-phenotype correlation and age-related penetrance of lesions in the cohort.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jc.2018-01170","type":"journal-article","created":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T14:03:21Z","timestamp":1539871401000},"page":"753-764","source":"Crossref","is-referenced-by-count":69,"title":["UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1775-9569","authenticated-orcid":false,"given":"Pauline","family":"Romanet","sequence":"first","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Giraud","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospices Civils de Lyon, University Hospital (HCL), East Pathology Center, Lyon, Bron Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Fran\u00e7oise","family":"Odou","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire \u201cHormonologie, M\u00e9tabolisme-Nutrition, Oncologie\u201d, Centre de Biologie Pathologie, Centre Hospitalier Universitaire Lille, Lille Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Odile","family":"North","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biochimie Mol\u00e9culaires, H\u00f4pital Cochin, Assistance Publique-H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgane","family":"Pertuit","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Pasmant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biochimie Mol\u00e9culaires, H\u00f4pital Cochin, Assistance Publique-H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Coppin","sequence":"additional","affiliation":[{"name":"Univ. Lille, INSERM, CHU Lille, UMR-S 1172, - JPARC - Jean-Pierre Aubert Research Center, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Guien","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, U 1251 Bioinformatic Team, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Calender","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospices Civils de Lyon, University Hospital (HCL), East Pathology Center, Lyon, Bron Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Borson-Chazot","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, F\u00e9d\u00e9ration d\u2019Endocrinologie, Universit\u00e9 Claude Bernard Lyon 1, HESPER EA 7425, Lyon, 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