{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T11:29:36Z","timestamp":1771932576583,"version":"3.50.1"},"reference-count":20,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T00:00:00Z","timestamp":1771891200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Multiple endocrine neoplasia type 1 (MEN1) syndrome is the most common inherited cause of familial primary hyperparathyroidism. Diagnosis can be clinical, with at least 2 MEN1-associated tumors, or with 1 tumor plus a family history, or through genetic testing. A 31-year-old woman presented with hypercalcemia due to primary hyperparathyroidism. A 4-dimensional computed tomography (4D CT) and ultrasonography (US) of neck revealed 1 right-sided and 1 left-sided lesion consistent with parathyroid adenomas. Given her young age and a maternal history of primary hyperparathyroidism genetic testing was pursued and identified an MEN1 (NM_130799.2): c.652C&amp;gt;T (p.Arg218Trp) variant, reported as a variant of uncertain significance (VUS) with conflicting interpretations across laboratories. This variant had conflicting interpretations of VUS or pathogenic among several genetic testing laboratories. Further evaluation revealed a pancreatic neuroendocrine tumor and a pituitary cyst, with otherwise normal hormonal testing. Genetic testing in the patient's mother identified the same MEN1 variant. The presence of a clinical MEN1 diagnosis and familial segregation in 2 affected individuals provides additional evidence supporting reclassification of this variant from VUS to likely pathogenic.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag015","type":"journal-article","created":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T12:39:48Z","timestamp":1769258388000},"source":"Crossref","is-referenced-by-count":0,"title":["Multiple endocrine neoplasia type 1 with\n                    <i>MEN1<\/i>\n                    c.652C&amp;gt;T (p.Arg218Trp): variant reclassified to likely pathogenic"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8468-9196","authenticated-orcid":false,"given":"Muhammed","family":"Kizilgul","sequence":"first","affiliation":[{"name":"Diabetes, Endocrinology and Metabolism, University of Minnesota , Minneapolis, MN 55455 ,","place":["USA"]},{"name":"Department of Endocrinology and Metabolism, University of Health Sciences, Etlik City Hospital , Ankara 06170 ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alyssa","family":"Gardner","sequence":"additional","affiliation":[{"name":"Clinical Cancer Genetics Service, Veterans Affairs National TeleOncology Program , Durham, NC 27705 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul","family":"Herrera","sequence":"additional","affiliation":[{"name":"Diabetes, Endocrinology and Metabolism, University of Minnesota , Minneapolis, MN 55455 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna F","family":"Klimovitsky","sequence":"additional","affiliation":[{"name":"Diabetes, Endocrinology and Metabolism, University of Minnesota , Minneapolis, MN 55455 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6041-5684","authenticated-orcid":false,"given":"Shalamar D","family":"Sibley","sequence":"additional","affiliation":[{"name":"Diabetes, Endocrinology and Metabolism, University of Minnesota , Minneapolis, MN 55455 ,","place":["USA"]},{"name":"Endocrinology, Diabetes and Metabolism, Minneapolis Veteran Affairs Health Care System , Minneapolis, MN 55417 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2026,2,24]]},"reference":[{"key":"2026022405493793200_luag015-B1","doi-asserted-by":"crossref","first-page":"339","DOI":"10.3389\/fendo.2019.00339","article-title":"Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis","volume":"10","author":"Kamilaris","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"5","key":"2026022405493793200_luag015-B2","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1210\/endrev\/bnad009","article-title":"Molecular and clinical spectrum of primary 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