{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:13:32Z","timestamp":1787022812321,"version":"build-2736575974"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,1]]},"abstract":"\n Objective<\/jats:title>\n \n Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most frequently involved being\n MEN1<\/jats:italic>\n ,\n CDC73<\/jats:italic>\n \u2009=\u2009\n HRPT2<\/jats:italic>\n and\n CASR<\/jats:italic>\n . During the last few years, new genes have been described as responsible for the development of PHPT such as\n GCM2<\/jats:italic>\n . These genes are not systematically included in PHPT genetic screening yet. The aim of this work was to assess the importance of\n GCM2<\/jats:italic>\n genetic analysis in PHPT to determine if this gene should be included in gene panel investigated for this disease.\n <\/jats:p>\n <\/jats:sec>\n \n Design and methods<\/jats:title>\n \n The TENGEN network (French Oncogenetic Network of Neuroendocrine Tumors) collected and interpreted allelic variants according to the clinical characteristics of the\n GCM2<\/jats:italic>\n -positive patients identified through genetic testing performed in French laboratories (713 patients with PHPT).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n From 713 patients with PHPT included in this study, 85 (6.6%) carried at least one\n GCM2<\/jats:italic>\n variant. A total of 12 variants classified as uncertain significance or likely pathogenic were reported in 47 patients. Their mean age at PHPT diagnosis was 49 years. Additionally, the investigation of a large family showed that\n GCM2<\/jats:italic>\n variants could be associated with low penetrance.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n We provide a description and interpretation for\n GCM2<\/jats:italic>\n variants identified in a French population. We suggest that this gene should be included in genetic screening of patients with PHPT and propose the follow-up of asymptomatic patients carrying such variants for calcemia.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/eje-19-0641","type":"journal-article","created":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T09:15:08Z","timestamp":1572426908000},"page":"57-65","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":17,"title":["Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?"],"prefix":"10.1093","volume":"182","author":[{"given":"Lucie","family":"Coppin","sequence":"first","affiliation":[{"name":"1Universite de Lille, Inserm, CHU Lille, UMR-S1172-JPArc, Centre de Recherche Jean Pierre Aubert Neurosciences et Cancer, Lille Cedex, France"},{"name":"2Service de Biochimie et Biologie Mol\u00e9culaire \u2018Hormonologie, M\u00e9tabolisme-Nutrition, Oncologie\u2019, CHU Lille, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Dufosse","sequence":"additional","affiliation":[{"name":"2Service de Biochimie et Biologie Mol\u00e9culaire \u2018Hormonologie, M\u00e9tabolisme-Nutrition, Oncologie\u2019, CHU Lille, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[{"name":"3Aix Marseille Universit\u00e9, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Giraud","sequence":"additional","affiliation":[{"name":"4Genetics Department, Hospices Civils de LYON (HCL), University Hospital, East Pathology Center, Bron Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Odile","family":"North","sequence":"additional","affiliation":[{"name":"5Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, Assistance Publique \u2013 H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Cardot Bauters","sequence":"additional","affiliation":[{"name":"6Service d\u2019Endocrinologie, H\u00f4pital Claude Huriez, CHU Lille, Lille Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Borson-Chazot","sequence":"additional","affiliation":[{"name":"7Hospices Civils de Lyon, F\u00e9d\u00e9ration d\u2019Endocrinologie, Universit\u00e9 Claude Bernard Lyon 1, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Duchesne","sequence":"additional","affiliation":[{"name":"8Service d\u2019Endocrinologie, CHR Mercy, Metz, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"M\u00e9tallo","sequence":"additional","affiliation":[{"name":"9Department of Endocrinology, University Hospital Center of Nancy, Nancy, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tonio","family":"Lovecchio","sequence":"additional","affiliation":[{"name":"2Service de Biochimie et Biologie Mol\u00e9culaire \u2018Hormonologie, M\u00e9tabolisme-Nutrition, Oncologie\u2019, CHU Lille, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"3Aix Marseille Universit\u00e9, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Fran\u00e7oise","family":"Odou","sequence":"additional","affiliation":[{"name":"2Service de Biochimie et Biologie Mol\u00e9culaire \u2018Hormonologie, M\u00e9tabolisme-Nutrition, Oncologie\u2019, CHU Lille, Lille, France"},{"name":"10Faculty of Pharmacy, UMR995, LIRIC (Lille Inflammation Research International Center), University of Lille, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/182\/1\/EJE-19-0641.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/182\/1\/EJE-19-0641.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T11:13:51Z","timestamp":1676373231000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/182\/1\/57\/6653909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":0,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.1530\/eje-19-0641","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1]]}}}