{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:29:38Z","timestamp":1771669778814,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,8,11]],"date-time":"2011-08-11T00:00:00Z","timestamp":1313020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT\u2010jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene <jats:italic>CDC73<\/jats:italic> account for 14 and 50% of all FIHP and HPT\u2010JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients. Although more than 60 independent germline mutations have been described, to date no rearrangement affecting the <jats:italic>CDC73<\/jats:italic> locus has been identified. By means of multiplex\u2010PCR we found a large germline deletion affecting the whole gene in a two\u2010generation HPT\u2010JT family. Subsequently array\u2010CGH and specific PCR analysis determined that the mutation spanned \u223c 547 kb, and included four additional genes<jats:italic>:<\/jats:italic>\n<jats:italic>TROVE2<\/jats:italic>, <jats:italic>GLRX2<\/jats:italic>, <jats:italic>B3GALT2<\/jats:italic>, and <jats:italic>UCHL5<\/jats:italic>. Although no clear mutation\u2010specific phenotype was found associated to the presence of the mutation, further studies are needed to assess whether the loss of the neighboring genes could modify the phenotype of carriers. There was complete absence of nuclear staining in the two HPT\u2010JT\u2010related tumors available. The finding of the first rearrangement affecting the <jats:italic>CDC73<\/jats:italic> gene warrants screening for this tumor suppressor gene inactivation mechanism not only in high\u2010risk <jats:italic>CDC73<\/jats:italic> point mutation\u2010negative HPT\u2010JT families, but also in FIHP patients. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20911","type":"journal-article","created":{"date-parts":[[2011,8,11]],"date-time":"2011-08-11T15:36:00Z","timestamp":1313076960000},"page":"922-929","source":"Crossref","is-referenced-by-count":40,"title":["Detection of the first gross CDC73 germline deletion in an HPT\u2010JT syndrome family"],"prefix":"10.1002","volume":"50","author":[{"given":"Alberto","family":"Casc\u00f3n","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos 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