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Somatic changes in the USP8\n gene account for the most common genetic defect in corticotrophinomas,\n especially in females, while variants in TP53 or ATRX are\n associated with a subset of aggressive tumours. Germline defects have also been\n identified in patients with Cushing\u2019s disease: some are well-established\n (MEN1, CDKN1B, DICER1), while others are rare and could represent\n coincidences. In this review, we summarise the current knowledge on the genetic\n drivers of corticotroph tumorigenesis, their molecular consequences, and their\n impact on the clinical presentation and prognosis.<\/jats:p>","DOI":"10.1055\/a-2337-2265","type":"journal-article","created":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T23:18:55Z","timestamp":1717456735000},"page":"678-696","source":"Crossref","is-referenced-by-count":4,"title":["An Update on the Genetic Drivers of Corticotroph\n Tumorigenesis"],"prefix":"10.1055","volume":"132","author":[{"given":"Laura C.","family":"Hern\u00e1ndez-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Red de Apoyo a la Investigaci\u00f3n, Coordinaci\u00f3n de la Investigaci\u00f3n\n Cient\u00edfica, Universidad Nacional Aut\u00f3noma de M\u00e9xico e Instituto Nacional de\n Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Gustavo","family":"Perez-Rivas","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik IV, LMU Klinikum, LMU M\u00fcnchen,\n Munich 80336, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marily","family":"Theodoropoulou","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik IV, LMU Klinikum, LMU M\u00fcnchen,\n Munich 80336, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine,\n Queen Mary University of London, Charterhouse Square, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,7,3]]},"reference":[{"key":"ref1","volume-title":"Pituitary Tumours: Anterior Pituitary Neuroendocrine Tumours (PitNETs)\/ PitNETs\n of TPIT Lineage\/ Corticotroph PitNET\/Adenoma. 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Clayton","year":"2016","journal-title":"Lancet Diabetes Endocrinol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"2375","DOI":"10.1210\/jc.2018-02524","article-title":"Overall and disease-specific mortality in patients with Cushing disease: A\n Swedish nationwide study","volume":"104","author":"O Ragnarsson","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"e12","DOI":"10.1210\/clinem\/dgz136","article-title":"Time to diagnosis in Cushing's syndrome: A meta-analysis based on 5367\n patients","volume":"105","author":"G Rubinstein","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1210\/jc.2005-1058","article-title":"Long-term impaired quality of life in Cushing's syndrome despite\n initial improvement after surgical remission","volume":"91","author":"J R Lindsay","year":"2006","journal-title":"J Clin Endocrinol 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