{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:46:06Z","timestamp":1790696766097,"version":"4.1.0"},"publisher-location":"Cham","reference-count":86,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783030259044","type":"print"},{"value":"9783030259051","type":"electronic"}],"license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019]]},"DOI":"10.1007\/978-3-030-25905-1_9","type":"book-chapter","created":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T17:02:41Z","timestamp":1570381361000},"page":"149-169","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Diseases Predisposing to Adrenocortical Malignancy (Li\u2013Fraumeni Syndrome, Beckwith\u2013Wiedemann Syndrome, and Carney Complex)"],"prefix":"10.1007","author":[{"given":"Anne","family":"Jouinot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bertherat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,7]]},"reference":[{"key":"9_CR1","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1097\/CCO.0000000000000423","volume":"30","author":"A Amadou","year":"2018","unstructured":"Amadou A, Waddington Achatz MI, Hainaut P (2018) Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. Curr Opin Oncol 30:23\u201329. \n                    https:\/\/doi.org\/10.1097\/CCO.0000000000000423","journal-title":"Curr Opin Oncol"},{"key":"9_CR2","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1210\/jc.2011-2244","volume":"97","author":"J Anselmo","year":"2012","unstructured":"Anselmo J, Medeiros S, Carneiro V et al (2012) A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. J Clin Endocrinol Metab 97:351\u2013359. \n                    https:\/\/doi.org\/10.1210\/jc.2011-2244","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR3","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/j.ejmg.2018.05.014","volume":"61","author":"I Barisic","year":"2018","unstructured":"Barisic I, Boban L, Akhmedzhanova D et al (2018) Beckwith Wiedemann syndrome: a population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe. Eur J Med Genet 61:499\u2013507. \n                    https:\/\/doi.org\/10.1016\/j.ejmg.2018.05.014","journal-title":"Eur J Med Genet"},{"key":"9_CR4","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1007\/s00439-013-1379-z","volume":"133","author":"B Baskin","year":"2014","unstructured":"Baskin B, Choufani S, Chen Y-A et al (2014) High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet 133:321\u2013330. \n                    https:\/\/doi.org\/10.1007\/s00439-013-1379-z","journal-title":"Hum Genet"},{"key":"9_CR5","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1210\/jc.2011-3327","volume":"97","author":"J Bertherat","year":"2012","unstructured":"Bertherat J (2012) Adrenocortical cancer in Carney complex: a paradigm of endocrine tumor progression or an association of genetic predisposing factors? J Clin Endocrinol Metab 97:387\u2013390. \n                    https:\/\/doi.org\/10.1210\/jc.2011-3327","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR6","doi-asserted-by":"publisher","first-page":"2085","DOI":"10.1210\/jc.2008-2333","volume":"94","author":"J Bertherat","year":"2009","unstructured":"Bertherat J, Horvath A, Groussin L et al (2009) Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2032-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 94:2085\u20132091. \n                    https:\/\/doi.org\/10.1210\/jc.2008-2333","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR7","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1056\/NEJMoa1310359","volume":"370","author":"F Beuschlein","year":"2014","unstructured":"Beuschlein F, Fassnacht M, Assi\u00e9 G et al (2014) Constitutive activation of PKA catalytic subunit in adrenal Cushing\u2019s syndrome. N Engl J Med 370:1019\u20131028. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1310359","journal-title":"N Engl J Med"},{"key":"9_CR8","first-page":"1298","volume":"54","author":"JM Birch","year":"1994","unstructured":"Birch JM, Hartley AL, Tricker KJ et al (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298\u20131304","journal-title":"Cancer Res"},{"key":"9_CR9","doi-asserted-by":"publisher","unstructured":"Bonneville R, Krook MA, Kautto EA et al (2017) Landscape of microsatellite instability across 39 Cancer types. JCO Precis Oncol 2017. \n                    https:\/\/doi.org\/10.1200\/PO.17.00073","DOI":"10.1200\/PO.17.00073"},{"key":"9_CR10","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1002\/humu.23035","volume":"37","author":"L Bouaoun","year":"2016","unstructured":"Bouaoun L, Sonkin D, Ardin M et al (2016) TP53 variations in human cancers: new lessons from the IARC TP53 database and genomics data. Hum Mutat 37:865\u2013876. \n                    https:\/\/doi.org\/10.1002\/humu.23035","journal-title":"Hum Mutat"},{"key":"9_CR11","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1200\/JCO.2014.59.5728","volume":"33","author":"G Bougeard","year":"2015","unstructured":"Bougeard G, Renaux-Petel M, Flaman J-M et al (2015) Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol Off J Am Soc Clin Oncol 33:2345\u20132352. \n                    https:\/\/doi.org\/10.1200\/JCO.2014.59.5728","journal-title":"J Clin Oncol Off J Am Soc Clin Oncol"},{"key":"9_CR12","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1159\/000355544","volume":"80","author":"F Brioude","year":"2013","unstructured":"Brioude F, Lacoste A, Netchine I et al (2013) Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr 80:457\u2013465. \n                    https:\/\/doi.org\/10.1159\/000355544","journal-title":"Horm Res Paediatr"},{"key":"9_CR13","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/nrendo.2017.166","volume":"14","author":"F Brioude","year":"2018","unstructured":"Brioude F, Kalish JM, Mussa A et al (2018) Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol 14:229\u2013249. \n                    https:\/\/doi.org\/10.1038\/nrendo.2017.166","journal-title":"Nat Rev Endocrinol"},{"key":"9_CR14","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","volume":"64","author":"JA Carney","year":"1985","unstructured":"Carney JA, Gordon H, Carpenter PC et al (1985) The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 64:270\u2013283","journal-title":"Medicine (Baltimore)"},{"key":"9_CR15","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1007\/s11102-006-0266-1","volume":"9","author":"L Cazabat","year":"2006","unstructured":"Cazabat L, Ragazzon B, Groussin L, Bertherat J (2006) PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Pituitary 9:211\u2013219. \n                    https:\/\/doi.org\/10.1007\/s11102-006-0266-1","journal-title":"Pituitary"},{"key":"9_CR16","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1093\/hmg\/ddn031","volume":"17","author":"F Cerrato","year":"2008","unstructured":"Cerrato F, Sparago A, Verde G et al (2008) Different mechanisms cause imprinting defects at the IGF2\/H19 locus in Beckwith-Wiedemann syndrome and Wilms\u2019 tumour. Hum Mol Genet 17:1427\u20131435. \n                    https:\/\/doi.org\/10.1093\/hmg\/ddn031","journal-title":"Hum Mol Genet"},{"key":"9_CR17","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1136\/jmg.38.1.43","volume":"38","author":"A Chompret","year":"2001","unstructured":"Chompret A, Abel A, Stoppa-Lyonnet D et al (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43\u201347","journal-title":"J Med Genet"},{"key":"9_CR18","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1007\/s10815-018-1173-x","volume":"35","author":"VK Cortessis","year":"2018","unstructured":"Cortessis VK, Azadian M, Buxbaum J et al (2018) Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. J Assist Reprod Genet 35:943\u2013952. \n                    https:\/\/doi.org\/10.1007\/s10815-018-1173-x","journal-title":"J Assist Reprod Genet"},{"key":"9_CR19","doi-asserted-by":"publisher","first-page":"2619","DOI":"10.1200\/JCO.2012.46.3711","volume":"31","author":"G Cust\u00f3dio","year":"2013","unstructured":"Cust\u00f3dio G, Parise GA, Kiesel Filho N et al (2013) Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol Off J Am Soc Clin Oncol 31:2619\u20132626. \n                    https:\/\/doi.org\/10.1200\/JCO.2012.46.3711","journal-title":"J Clin Oncol Off J Am Soc Clin Oncol"},{"key":"9_CR20","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/humu.23673","volume":"40","author":"KC Andrade de","year":"2019","unstructured":"de Andrade KC, Frone MN, Wegman-Ostrosky T et al (2019) Variable population prevalence estimates of germline TP53 variants: a gnomAD-based analysis. Hum Mutat 40:97\u2013105. \n                    https:\/\/doi.org\/10.1002\/humu.23673","journal-title":"Hum Mutat"},{"key":"9_CR21","doi-asserted-by":"publisher","first-page":"284","DOI":"10.2350\/08-06-0489.1","volume":"12","author":"LP Dehner","year":"2009","unstructured":"Dehner LP, Hill DA (2009) Adrenal cortical neoplasms in children: why so many carcinomas and yet so many survivors? Pediatr Dev Pathol 12:284\u2013291. \n                    https:\/\/doi.org\/10.2350\/08-06-0489.1","journal-title":"Pediatr Dev Pathol"},{"key":"9_CR22","first-page":"101","volume":"25","author":"RA Eeles","year":"1995","unstructured":"Eeles RA (1995) Germline mutations in the TP53 gene. Cancer Surv 25:101\u2013124","journal-title":"Cancer Surv"},{"key":"9_CR23","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1038\/ejhg.2016.45","volume":"24","author":"K Eggermann","year":"2016","unstructured":"Eggermann K, Bliek J, Brioude F et al (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet 24:1377\u20131387. \n                    https:\/\/doi.org\/10.1038\/ejhg.2016.45","journal-title":"Eur J Hum Genet"},{"key":"9_CR24","doi-asserted-by":"publisher","first-page":"e4756","DOI":"10.1097\/MD.0000000000004756","volume":"95","author":"N Ghorayeb El","year":"2016","unstructured":"El Ghorayeb N, Grunenwald S, Nolet S et al (2016) First case report of an adrenocortical carcinoma caused by a BRCA2 mutation. Medicine (Baltimore) 95:e4756. \n                    https:\/\/doi.org\/10.1097\/MD.0000000000004756","journal-title":"Medicine (Baltimore)"},{"key":"9_CR25","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1530\/EJE-17-0358","volume":"177","author":"T Else","year":"2017","unstructured":"Else T, Lerario AM, Everett J et al (2017) Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series. Eur J Endocrinol 177:439\u2013444. \n                    https:\/\/doi.org\/10.1530\/EJE-17-0358","journal-title":"Eur J Endocrinol"},{"key":"9_CR26","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1159\/000345669","volume":"41","author":"S Espiard","year":"2013","unstructured":"Espiard S, Bertherat J (2013) Carney complex. Front Horm Res 41:50\u201362. \n                    https:\/\/doi.org\/10.1159\/000345669","journal-title":"Front Horm Res"},{"key":"9_CR27","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1136\/jmg.2004.030551","volume":"43","author":"BC Figueiredo","year":"2006","unstructured":"Figueiredo BC, Sandrini R, Zambetti GP et al (2006) Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. J Med Genet 43:91\u201396. \n                    https:\/\/doi.org\/10.1136\/jmg.2004.030551","journal-title":"J Med Genet"},{"key":"9_CR28","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1056\/NEJMc1309730","volume":"370","author":"A Forlino","year":"2014","unstructured":"Forlino A, Vetro A, Garavelli L et al (2014) PRKACB and Carney complex. N Engl J Med 370:1065\u20131067. \n                    https:\/\/doi.org\/10.1056\/NEJMc1309730","journal-title":"N Engl J Med"},{"key":"9_CR29","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1002\/humu.21151","volume":"31","author":"S Garritano","year":"2010","unstructured":"Garritano S, Gemignani F, Palmero EI et al (2010) Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of southern Brazil: evidence for a founder effect. Hum Mutat 31:143\u2013150. \n                    https:\/\/doi.org\/10.1002\/humu.21151","journal-title":"Hum Mutat"},{"key":"9_CR30","doi-asserted-by":"publisher","first-page":"5133","DOI":"10.1158\/1078-0432.CCR-10-1497","volume":"16","author":"S Gaujoux","year":"2010","unstructured":"Gaujoux S, Pinson S, Gimenez-Roqueplo A-P et al (2010) Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers. Clin Cancer Res 16:5133\u20135141. \n                    https:\/\/doi.org\/10.1158\/1078-0432.CCR-10-1497","journal-title":"Clin Cancer Res"},{"key":"9_CR31","doi-asserted-by":"publisher","first-page":"2559","DOI":"10.1210\/jcem.82.8.4170","volume":"82","author":"C Gicquel","year":"1997","unstructured":"Gicquel C, Raffin-Sanson ML, Gaston V et al (1997) Structural and functional abnormalities at 11p15 are associated with the malignant phenotype in sporadic adrenocortical tumors: study on a series of 82 tumors. J Clin Endocrinol Metab 82:2559\u20132565. \n                    https:\/\/doi.org\/10.1210\/jcem.82.8.4170","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR32","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1200\/JCO.2008.16.6959","volume":"27","author":"KD Gonzalez","year":"2009","unstructured":"Gonzalez KD, Noltner KA, Buzin CH et al (2009) Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol Off J Am Soc Clin Oncol 27:1250\u20131256. \n                    https:\/\/doi.org\/10.1200\/JCO.2008.16.6959","journal-title":"J Clin Oncol Off J Am Soc Clin Oncol"},{"key":"9_CR33","doi-asserted-by":"publisher","first-page":"1433","DOI":"10.1086\/344579","volume":"71","author":"L Groussin","year":"2002","unstructured":"Groussin L, Kirschner LS, Vincent-Dejean C et al (2002) Molecular analysis of the cyclic AMP-dependent protein kinase a (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. Am J Hum Genet 71:1433\u20131442. \n                    https:\/\/doi.org\/10.1086\/344579","journal-title":"Am J Hum Genet"},{"key":"9_CR34","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1007\/BF00279003","volume":"81","author":"I Henry","year":"1989","unstructured":"Henry I, Jeanpierre M, Couillin P et al (1989) Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. Hum Genet 81:273\u2013277","journal-title":"Hum Genet"},{"key":"9_CR35","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1159\/000472384","volume":"1","author":"I Henry","year":"1993","unstructured":"Henry I, Puech A, Riesewijk A et al (1993) Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet EJHG 1:19\u201329","journal-title":"Eur J Hum Genet EJHG"},{"key":"9_CR36","doi-asserted-by":"publisher","first-page":"E476","DOI":"10.1210\/jc.2011-1982","volume":"97","author":"LJM Herrmann","year":"2012","unstructured":"Herrmann LJM, Heinze B, Fassnacht M et al (2012) TP53 germline mutations in adult patients with adrenocortical carcinoma. J Clin Endocrinol Metab 97:E476\u2013E485. \n                    https:\/\/doi.org\/10.1210\/jc.2011-1982","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR37","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1186\/1748-717X-5-104","volume":"5","author":"S Heymann","year":"2010","unstructured":"Heymann S, Delaloge S, Rahal A et al (2010) Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol Lond Engl 5:104. \n                    https:\/\/doi.org\/10.1186\/1748-717X-5-104","journal-title":"Radiat Oncol Lond Engl"},{"key":"9_CR38","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1038\/ng1809","volume":"38","author":"A Horvath","year":"2006","unstructured":"Horvath A, Boikos S, Giatzakis C et al (2006) A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 38:794\u2013800. \n                    https:\/\/doi.org\/10.1038\/ng1809","journal-title":"Nat Genet"},{"key":"9_CR39","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1056\/NEJMc0706182","volume":"358","author":"A Horvath","year":"2008","unstructured":"Horvath A, Mericq V, Stratakis CA (2008) Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med 358:750\u2013752. \n                    https:\/\/doi.org\/10.1056\/NEJMc0706182","journal-title":"N Engl J Med"},{"key":"9_CR40","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1002\/humu.21178","volume":"31","author":"A Horvath","year":"2010","unstructured":"Horvath A, Bertherat J, Groussin L et al (2010) Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase a (PRKAR1A): an update. Hum Mutat 31:369\u2013379. \n                    https:\/\/doi.org\/10.1002\/humu.21178","journal-title":"Hum Mutat"},{"key":"9_CR41","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/1868-7083-6-11","volume":"6","author":"A Ibrahim","year":"2014","unstructured":"Ibrahim A, Kirby G, Hardy C et al (2014) Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenet 6:11. \n                    https:\/\/doi.org\/10.1186\/1868-7083-6-11","journal-title":"Clin Epigenet"},{"key":"9_CR42","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/79238","volume":"26","author":"LS Kirschner","year":"2000","unstructured":"Kirschner LS, Carney JA, Pack SD et al (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26:89\u201392. \n                    https:\/\/doi.org\/10.1038\/79238","journal-title":"Nat Genet"},{"key":"9_CR43","doi-asserted-by":"publisher","first-page":"e38","DOI":"10.1158\/1078-0432.CCR-17-0408","volume":"23","author":"CP Kratz","year":"2017","unstructured":"Kratz CP, Achatz MI, Brugi\u00e8res L et al (2017) Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res Off J Am Assoc Cancer Res 23:e38\u2013e45. \n                    https:\/\/doi.org\/10.1158\/1078-0432.CCR-17-0408","journal-title":"Clin Cancer Res Off J Am Assoc Cancer Res"},{"key":"9_CR44","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/358015a0","volume":"358","author":"DP Lane","year":"1992","unstructured":"Lane DP (1992) Cancer. p53, guardian of the genome. Nature 358:15\u201316. \n                    https:\/\/doi.org\/10.1038\/358015a0","journal-title":"Nature"},{"key":"9_CR45","doi-asserted-by":"publisher","first-page":"2509","DOI":"10.1056\/NEJMoa1500596","volume":"372","author":"DT Le","year":"2015","unstructured":"Le DT, Uram JN, Wang H et al (2015) PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372:2509\u20132520. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1500596","journal-title":"N Engl J Med"},{"key":"9_CR46","doi-asserted-by":"publisher","first-page":"747","DOI":"10.7326\/0003-4819-71-4-747","volume":"71","author":"FP Li","year":"1969","unstructured":"Li FP, Fraumeni JF (1969) Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71:747\u2013752","journal-title":"Ann Intern Med"},{"key":"9_CR47","first-page":"5358","volume":"48","author":"FP Li","year":"1988","unstructured":"Li FP, Fraumeni JF, Mulvihill JJ et al (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358\u20135362","journal-title":"Cancer Res"},{"key":"9_CR48","doi-asserted-by":"publisher","first-page":"E208","DOI":"10.1210\/jc.2010-1704","volume":"96","author":"R Lib\u00e9","year":"2011","unstructured":"Lib\u00e9 R, Horvath A, Vezzosi D et al (2011) Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab 96:E208\u2013E214. \n                    https:\/\/doi.org\/10.1210\/jc.2010-1704","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR49","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1038\/nrendo.2016.24","volume":"12","author":"M Lodish","year":"2016","unstructured":"Lodish M, Stratakis CA (2016) A genetic and molecular update on adrenocortical causes of Cushing syndrome. Nat Rev Endocrinol 12:255\u2013262. \n                    https:\/\/doi.org\/10.1038\/nrendo.2016.24","journal-title":"Nat Rev Endocrinol"},{"key":"9_CR50","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1530\/EJE-14-1154","volume":"172","author":"MB Lodish","year":"2015","unstructured":"Lodish MB, Yuan B, Levy I et al (2015) Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol 172:803\u2013811. \n                    https:\/\/doi.org\/10.1530\/EJE-14-1154","journal-title":"Eur J Endocrinol"},{"key":"9_CR51","doi-asserted-by":"publisher","first-page":"2248","DOI":"10.1002\/ajmg.a.37801","volume":"170","author":"SM Maas","year":"2016","unstructured":"Maas SM, Vansenne F, Kadouch DJM et al (2016) Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. Am J Med Genet A 170:2248\u20132260. \n                    https:\/\/doi.org\/10.1002\/ajmg.a.37801","journal-title":"Am J Med Genet A"},{"key":"9_CR52","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1126\/science.1978757","volume":"250","author":"D Malkin","year":"1990","unstructured":"Malkin D, Li FP, Strong LC et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233\u20131238","journal-title":"Science"},{"key":"9_CR53","doi-asserted-by":"publisher","first-page":"3150","DOI":"10.1002\/cncr.30703","volume":"123","author":"MJ Mastellaro","year":"2017","unstructured":"Mastellaro MJ, Seidinger AL, Kang G et al (2017) Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: insights from the study of 55 families of children with adrenocortical tumors. Cancer 123:3150\u20133158. \n                    https:\/\/doi.org\/10.1002\/cncr.30703","journal-title":"Cancer"},{"key":"9_CR54","doi-asserted-by":"publisher","first-page":"E202","DOI":"10.1210\/jc.2011-2321","volume":"97","author":"E Morin","year":"2012","unstructured":"Morin E, Mete O, Wasserman JD et al (2012) Carney complex with adrenal cortical carcinoma. J Clin Endocrinol Metab 97:E202\u2013E206. \n                    https:\/\/doi.org\/10.1210\/jc.2011-2321","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR55","doi-asserted-by":"publisher","first-page":"2481","DOI":"10.1002\/ajmg.a.36080","volume":"161A","author":"A Mussa","year":"2013","unstructured":"Mussa A, Russo S, De Crescenzo A et al (2013) Prevalence of Beckwith-Wiedemann syndrome in north west of Italy. Am J Med Genet A 161A:2481\u20132486. \n                    https:\/\/doi.org\/10.1002\/ajmg.a.36080","journal-title":"Am J Med Genet A"},{"key":"9_CR56","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.jpeds.2016.05.038","volume":"176","author":"A Mussa","year":"2016","unstructured":"Mussa A, Molinatto C, Baldassarre G et al (2016) Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi)genotype specific histotype targeted screening protocol. J Pediatr 176:142\u2013149.e1. \n                    https:\/\/doi.org\/10.1016\/j.jpeds.2016.05.038","journal-title":"J Pediatr"},{"issue":"1","key":"9_CR57","doi-asserted-by":"publisher","first-page":"e20164311","DOI":"10.1542\/peds.2016-4311","volume":"140","author":"A Mussa","year":"2017","unstructured":"Mussa A, Molinatto C, Cerrato F et al (2017) Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome. Pediatrics 140(1):e20164311. \n                    https:\/\/doi.org\/10.1542\/peds.2016-4311","journal-title":"Pediatrics"},{"key":"9_CR58","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/path.4880","volume":"242","author":"C Pilati","year":"2017","unstructured":"Pilati C, Shinde J, Alexandrov LB et al (2017) Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. J Pathol 242:10\u201315. \n                    https:\/\/doi.org\/10.1002\/path.4880","journal-title":"J Pathol"},{"key":"9_CR59","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1590\/S0004-27302004000500009","volume":"48","author":"EM Pinto","year":"2004","unstructured":"Pinto EM, Billerbeck AEC, Villares MCBF et al (2004) Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol 48:647\u2013650. \n                    https:\/\/doi.org\/10.1590\/S0004-27302004000500009","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"9_CR60","doi-asserted-by":"publisher","first-page":"2026","DOI":"10.1200\/JCO.2000.18.10.2026","volume":"18","author":"MH Porteus","year":"2000","unstructured":"Porteus MH, Narkool P, Neuberg D et al (2000) Characteristics and outcome of children with Beckwith-Wiedemann syndrome and Wilms\u2019 tumor: a report from the National Wilms Tumor Study Group. J Clin Oncol 18:2026\u20132031. \n                    https:\/\/doi.org\/10.1200\/JCO.2000.18.10.2026","journal-title":"J Clin Oncol"},{"key":"9_CR61","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1016\/j.surg.2008.03.022","volume":"143","author":"AC Powell","year":"2008","unstructured":"Powell AC, Stratakis CA, Patronas NJ et al (2008) Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. Surgery 143:750\u2013758. \n                    https:\/\/doi.org\/10.1016\/j.surg.2008.03.022","journal-title":"Surgery"},{"key":"9_CR62","doi-asserted-by":"publisher","first-page":"E119","DOI":"10.1210\/jc.2012-2198","volume":"98","author":"VM Raymond","year":"2013","unstructured":"Raymond VM, Else T, Everett JN et al (2013a) Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. J Clin Endocrinol Metab 98:E119\u2013E125. \n                    https:\/\/doi.org\/10.1210\/jc.2012-2198","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR63","doi-asserted-by":"publisher","first-page":"3012","DOI":"10.1200\/JCO.2012.48.0988","volume":"31","author":"VM Raymond","year":"2013","unstructured":"Raymond VM, Everett JN, Furtado LV et al (2013b) Adrenocortical carcinoma is a Lynch syndrome-associated cancer. J Clin Oncol 31:3012\u20133018. \n                    https:\/\/doi.org\/10.1200\/JCO.2012.48.0988","journal-title":"J Clin Oncol"},{"key":"9_CR64","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.tig.2011.12.002","volume":"28","author":"HC Reinhardt","year":"2012","unstructured":"Reinhardt HC, Schumacher B (2012) The p53 network: cellular and systemic DNA damage responses in aging and cancer. Trends Genet TIG 28:128\u2013136. \n                    https:\/\/doi.org\/10.1016\/j.tig.2011.12.002","journal-title":"Trends Genet TIG"},{"key":"9_CR65","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1136\/jmedgenet-2017-104976","volume":"55","author":"M Renaux-Petel","year":"2018","unstructured":"Renaux-Petel M, Charbonnier F, Th\u00e9ry J-C et al (2018) Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. J Med Genet 55:173\u2013180. \n                    https:\/\/doi.org\/10.1136\/jmedgenet-2017-104976","journal-title":"J Med Genet"},{"key":"9_CR66","doi-asserted-by":"publisher","first-page":"9330","DOI":"10.1073\/pnas.161479898","volume":"98","author":"RC Ribeiro","year":"2001","unstructured":"Ribeiro RC, Sandrini F, Figueiredo B et al (2001) An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci U S A 98:9330\u20139335. \n                    https:\/\/doi.org\/10.1073\/pnas.161479898","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9_CR67","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1111\/j.1365-2265.2012.04366.x","volume":"77","author":"A Rothenbuhler","year":"2012","unstructured":"Rothenbuhler A, Horvath A, Lib\u00e9 R et al (2012) Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours. Clin Endocrinol 77:195\u2013199. \n                    https:\/\/doi.org\/10.1111\/j.1365-2265.2012.04366.x","journal-title":"Clin Endocrinol"},{"key":"9_CR68","doi-asserted-by":"publisher","first-page":"E183","DOI":"10.1210\/jc.2013-3159","volume":"99","author":"P Salpea","year":"2014","unstructured":"Salpea P, Horvath A, London E et al (2014) Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab 99:E183\u2013E188. \n                    https:\/\/doi.org\/10.1210\/jc.2013-3159","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR69","volume-title":"GeneReviews\u00ae","author":"C Shuman","year":"1993","unstructured":"Shuman C, Beckwith JB, Weksberg R (1993) Beckwith-Wiedemann syndrome. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews\u00ae. University of Washington, Seattle (WA)"},{"key":"9_CR70","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1002\/ajmg.a.31323","volume":"140","author":"C Shuman","year":"2006","unstructured":"Shuman C, Smith AC, Steele L et al (2006) Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Am J Med Genet A 140:1497\u20131503. \n                    https:\/\/doi.org\/10.1002\/ajmg.a.31323","journal-title":"Am J Med Genet A"},{"key":"9_CR71","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1136\/jmg.31.10.749","volume":"31","author":"RE Slatter","year":"1994","unstructured":"Slatter RE, Elliott M, Welham K et al (1994) Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 31:749\u2013753","journal-title":"J Med Genet"},{"key":"9_CR72","doi-asserted-by":"publisher","first-page":"3010","DOI":"10.1002\/ajmg.a.32030","volume":"143A","author":"AC Smith","year":"2007","unstructured":"Smith AC, Shuman C, Chitayat D et al (2007) Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A 143A:3010\u20133015. \n                    https:\/\/doi.org\/10.1002\/ajmg.a.32030","journal-title":"Am J Med Genet A"},{"key":"9_CR73","doi-asserted-by":"publisher","first-page":"3924","DOI":"10.1210\/jc.2017-01045","volume":"102","author":"M Stelmachowska-Banas","year":"2017","unstructured":"Stelmachowska-Banas M, Zgliczynski W, Tutka P et al (2017) Fatal Carney complex in siblings due to De novo large gene deletion. J Clin Endocrinol Metab 102:3924\u20133927. \n                    https:\/\/doi.org\/10.1210\/jc.2017-01045","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR74","volume-title":"GeneReviews\u00ae","author":"CA Stratakis","year":"1993","unstructured":"Stratakis CA, Raygada M (1993) Carney complex. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews\u00ae. University of Washington, Seattle, Seattle (WA)"},{"key":"9_CR75","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<183::AID-AJMG19>3.0.CO;2-I","volume":"80","author":"CA Stratakis","year":"1998","unstructured":"Stratakis CA, Kirschner LS, Carney JA (1998) Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. Am J Med Genet 80:183\u2013185","journal-title":"Am J Med Genet"},{"key":"9_CR76","doi-asserted-by":"publisher","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","volume":"86","author":"CA Stratakis","year":"2001","unstructured":"Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86:4041\u20134046. \n                    https:\/\/doi.org\/10.1210\/jcem.86.9.7903","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR77","doi-asserted-by":"publisher","first-page":"e108","DOI":"10.1200\/JCO.2009.22.7967","volume":"27","author":"J Tinat","year":"2009","unstructured":"Tinat J, Bougeard G, Baert-Desurmont S et al (2009) 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol Off J Am Soc Clin Oncol 27:e108\u2013e109. \n                    https:\/\/doi.org\/10.1200\/JCO.2009.22.7967","journal-title":"J Clin Oncol Off J Am Soc Clin Oncol"},{"key":"9_CR78","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1016\/S1470-2045(11)70119-X","volume":"12","author":"A Villani","year":"2011","unstructured":"Villani A, Tabori U, Schiffman J et al (2011) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 12:559\u2013567. \n                    https:\/\/doi.org\/10.1016\/S1470-2045(11)70119-X","journal-title":"Lancet Oncol"},{"key":"9_CR79","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1016\/S1470-2045(16)30249-2","volume":"17","author":"A Villani","year":"2016","unstructured":"Villani A, Shore A, Wasserman JD et al (2016) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 17:1295\u20131305. \n                    https:\/\/doi.org\/10.1016\/S1470-2045(16)30249-2","journal-title":"Lancet Oncol"},{"key":"9_CR80","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1007\/s11060-005-0376-z","volume":"75","author":"AS Wagner","year":"2005","unstructured":"Wagner AS, Fleitz JM, Kleinschmidt-Demasters BK (2005) Pediatric adrenal cortical carcinoma: brain metastases and relationship to NF-1, case reports and review of the literature. J Neuro-Oncol 75:127\u2013133. \n                    https:\/\/doi.org\/10.1007\/s11060-005-0376-z","journal-title":"J Neuro-Oncol"},{"key":"9_CR81","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s00423-006-0124-7","volume":"392","author":"J Waldmann","year":"2007","unstructured":"Waldmann J, Bartsch DK, Kann PH et al (2007) Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening. Langenbeck\u2019s Arch Surg 392:437\u2013443. \n                    https:\/\/doi.org\/10.1007\/s00423-006-0124-7","journal-title":"Langenbeck\u2019s Arch Surg"},{"key":"9_CR82","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1200\/JCO.2013.52.6863","volume":"33","author":"JD Wasserman","year":"2015","unstructured":"Wasserman JD, Novokmet A, Eichler-Jonsson C et al (2015) Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children\u2019s oncology group study. J Clin Oncol 33:602\u2013609. \n                    https:\/\/doi.org\/10.1200\/JCO.2013.52.6863","journal-title":"J Clin Oncol"},{"key":"9_CR83","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2009.106","volume":"18","author":"R Weksberg","year":"2010","unstructured":"Weksberg R, Shuman C, Beckwith JB (2010) Beckwith-Wiedemann syndrome. Eur J Hum Genet EJHG 18:8\u201314. \n                    https:\/\/doi.org\/10.1038\/ejhg.2009.106","journal-title":"Eur J Hum Genet EJHG"},{"key":"9_CR84","first-page":"223","volume":"13","author":"HR Wiedemann","year":"1964","unstructured":"Wiedemann HR (1964) Familial malformation complex with umbilical hernia and macroglossia \u2013 a \u201cnew syndrome\u201d? J Genet Hum 13:223\u2013232","journal-title":"J Genet Hum"},{"key":"9_CR85","doi-asserted-by":"publisher","first-page":"2048","DOI":"10.1210\/jcem.85.5.6589","volume":"85","author":"F Wilkin","year":"2000","unstructured":"Wilkin F, Gagn\u00e9 N, Paquette J et al (2000) Pediatric adrenocortical tumors: molecular events leading to insulin-like growth factor II gene overexpression. J Clin Endocrinol Metab 85:2048\u20132056. \n                    https:\/\/doi.org\/10.1210\/jcem.85.5.6589","journal-title":"J Clin Endocrinol Metab"},{"key":"9_CR86","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1016\/j.ccell.2016.04.002","volume":"29","author":"S Zheng","year":"2016","unstructured":"Zheng S, Cherniack AD, Dewal N et al (2016) Comprehensive pan-genomic characterization of adrenocortical carcinoma. Cancer Cell 29:723\u2013736. \n                    https:\/\/doi.org\/10.1016\/j.ccell.2016.04.002","journal-title":"Cancer Cell"}],"container-title":["Experientia Supplementum","Genetics of Endocrine Diseases and Syndromes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-030-25905-1_9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T17:03:21Z","timestamp":1570381401000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-030-25905-1_9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"ISBN":["9783030259044","9783030259051"],"references-count":86,"URL":"https:\/\/doi.org\/10.1007\/978-3-030-25905-1_9","relation":{},"ISSN":["1664-431X","2504-3692"],"issn-type":[{"value":"1664-431X","type":"print"},{"value":"2504-3692","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]},"assertion":[{"value":"7 October 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}