{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:48:23Z","timestamp":1790470103666,"version":"4.1.0"},"reference-count":73,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,6,6]],"date-time":"2012-06-06T00:00:00Z","timestamp":1338940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Adrenocortical tumours (<jats:styled-content style=\"fixed-case\">ACT<\/jats:styled-content>), which include adenomas, carcinomas and adrenal hyperplasia, may be associated with genetic syndromes, such as <jats:styled-content style=\"fixed-case\">L<\/jats:styled-content>i\u2013<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>raumeni syndrome, <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>eckwith\u2013<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>iedemann syndrome, multiple endocrine neoplasia type 1, familial adenomatous polyposis and <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>arney complex. Genetic defects have been found to be responsible for the disease in most of these syndromes, allowing genetic counselling to affected patients and family members. Here, we summarize the clinical criteria of these hereditary syndromes and briefly describe the genetic alterations related to them. In addition, we discuss the involvement of various genetic defects in the development of sporadic adrenocortical tumours.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2012.04403.x","type":"journal-article","created":{"date-parts":[[2012,4,4]],"date-time":"2012-04-04T07:35:19Z","timestamp":1333524919000},"page":"1-10","source":"Crossref","is-referenced-by-count":44,"title":["Genetic aspects of adrenocortical tumours and hyperplasias"],"prefix":"10.1111","volume":"77","author":[{"given":"T\u00e2nia L.","family":"Mazzuco","sequence":"first","affiliation":[{"name":"Division of Endocrinology Department of Medicine Health Sciences Centre Universidade Estadual de Londrina (UEL) Londrina Paran\u00e1 Brazil"},{"name":"Division of Endocrinology Department of Medicine Research Centre Centre hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM) Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Durand","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Medicine Research Centre Centre hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM) Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Chapman","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Medicine Research Centre Centre hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM) Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jefferson","family":"Crespigio","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Medicine Health Sciences Centre Universidade Estadual de Londrina (UEL) Londrina Paran\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Bourdeau","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Medicine Research Centre Centre hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM) Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,6]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"5358","article-title":"A cancer family syndrome in twenty\u2010four kindreds","volume":"48","author":"Li F.P.","year":"1988","journal-title":"Cancer Research"},{"key":"e_1_2_5_3_1","first-page":"1298","article-title":"Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li\u2010Fraumeni families","volume":"54","author":"Birch J.M.","year":"1994","journal-title":"Cancer Research"},{"key":"e_1_2_5_4_1","first-page":"101","article-title":"Germline mutations in the TP53 gene","volume":"25","author":"Eeles R.A.","year":"1995","journal-title":"Cancer Surveys"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/CCO.0b013e328333bf00"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057570"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.161479898"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"4970","DOI":"10.1210\/jcem.86.10.7957","article-title":"An inherited mutation outside the highly conserved DNA\u2010binding domain of the p53 tumour suppressor protein in children and adults with sporadic adrenocortical tumours.","volume":"86","author":"Latronico A.C.","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2007.10.044"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.25826"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-005-1154-9"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04219.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.106"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30729"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30064"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.4103\/0189-6725.70431"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21694"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-005-1518-3"},{"key":"e_1_2_5_19_1","doi-asserted-by":"crossref","unstructured":"Marini F. 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