{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:29:10Z","timestamp":1790720950045,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T00:00:00Z","timestamp":1595548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Parathyroid carcinoma (PC) is a rare endocrine malignancy with poor outcomes. Although some mutations such as\n                    <jats:italic>CDC73<\/jats:italic>\n                    have been found in patients, the molecular mechanism of PC still needs extensive data to clarify. Whole\u2010genome sequencing (WGS) was performed with frozen samples from 23 PC patients. Peripheral leukocytes were collected from 14 patients and served as controls. Somatic and germline gene alterations, copy number abnormalities and structural variants were detected. Inactivating\n                    <jats:italic>CDC73<\/jats:italic>\n                    mutations were identified in 39.1% of patients, but only one germline inactivating mutation was found. Other cancer\u2010related mutations identified in more than one case were\n                    <jats:italic>MAF<\/jats:italic>\n                    (2\/23),\n                    <jats:italic>NEB<\/jats:italic>\n                    (6\/23),\n                    <jats:italic>NCOR1<\/jats:italic>\n                    (2\/23),\n                    <jats:italic>TTK<\/jats:italic>\n                    (2\/23),\n                    <jats:italic>GRIN3A<\/jats:italic>\n                    (4\/23),\n                    <jats:italic>TRIO<\/jats:italic>\n                    (2\/23),\n                    <jats:italic>MAP1B<\/jats:italic>\n                    (2\/23),\n                    <jats:italic>TJP2<\/jats:italic>\n                    (2\/23) and\n                    <jats:italic>FAM20A<\/jats:italic>\n                    (2\/23). In the seven wild\u2010type\n                    <jats:italic>CDC73<\/jats:italic>\n                    samples, the mutated genes were enriched in pathways involving antigen presentation, allograft rejection or autoimmune disease. More copy number variants were found in patients with cancer recurrence (\n                    <jats:italic>P<\/jats:italic>\n                    = .006) and\n                    <jats:italic>CDC73<\/jats:italic>\n                    mutations (\n                    <jats:italic>P<\/jats:italic>\n                    = .022) than in those without these characteristics.\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    loss was found in one sample, which also harboured a\n                    <jats:italic>CDC73<\/jats:italic>\n                    mutation. Gene alterations in the PI3K\/AKT\/mTOR pathway were found in 78.3% (18\/23) of tumours. The most prominent cancer\u2010predisposing mutations were\n                    <jats:italic>PDE4DIP<\/jats:italic>\n                    (15\/23),\n                    <jats:italic>MAP3K1<\/jats:italic>\n                    (13\/23) and\n                    <jats:italic>CDC42EP1<\/jats:italic>\n                    (10\/23). In conclusion, the PI3K\/AKT\/mTOR pathway may be pivotal in PC.\n                    <jats:italic>CDC73<\/jats:italic>\n                    mutation correlated with an increased mutational burden and tumour relapse. PC patients with wild\u2010type\n                    <jats:italic>CDC73<\/jats:italic>\n                    harboured mutations relevant to antigen presentation and autoimmune diseases. A molecular classification based on the\n                    <jats:italic>CDC73<\/jats:italic>\n                    mutation may help to manage follow\u2010up and therapy for PC patients.\n                  <\/jats:p>","DOI":"10.1002\/ijc.33166","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T16:32:56Z","timestamp":1592929976000},"page":"2446-2457","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["The genomic profile of parathyroid carcinoma based on whole\u2010genome sequencing"],"prefix":"10.1002","volume":"147","author":[{"given":"Ya","family":"Hu","sequence":"first","affiliation":[{"name":"Department of General Surgery Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing 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