{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T17:52:39Z","timestamp":1791395559884,"version":"4.3.3"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2011,11,9]],"date-time":"2011-11-09T00:00:00Z","timestamp":1320796800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2012,3]]},"DOI":"10.1038\/ejhg.2011.195","type":"journal-article","created":{"date-parts":[[2011,11,10]],"date-time":"2011-11-10T06:20:34Z","timestamp":1320906034000},"page":"291-297","source":"Crossref","is-referenced-by-count":51,"title":["ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome"],"prefix":"10.1038","volume":"20","author":[{"name":"on behalf of the Comit\u00e9 Neuroblastome of the Soci\u00e9t\u00e9 Francaise de Canc\u00e9rologie de l\u2019Enfant","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Bourdeaut","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Ferrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Brugi\u00e8res","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjorie","family":"Hilbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovic","family":"Lacroix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"B\u00e9nard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Combaret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Michon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Valteau-Couanet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Rialland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryline","family":"Poir\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Defachelles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Peuchmaur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"Schleiermacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Pierron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Gauthier-Villars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Janoueix-Lerosey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Delattre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,11,9]]},"reference":[{"key":"BFejhg2011195_CR1","first-page":"1365","volume":"43","author":"FP Li","year":"1969","unstructured":"Li FP, Fraumeni Jr JF : Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 1969; 43: 1365\u20131373.","journal-title":"J Natl Cancer Inst"},{"key":"BFejhg2011195_CR2","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1073\/pnas.68.4.820","volume":"68","author":"AG Knudson Jr","year":"1971","unstructured":"Knudson Jr AG : Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68: 820\u2013823.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2011195_CR3","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1086\/338934","volume":"70","author":"MR DeBaun","year":"2002","unstructured":"DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP : Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70: 604\u2013611.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011195_CR4","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1038\/ng.243","volume":"40","author":"RH Scott","year":"2008","unstructured":"Scott RH, Douglas J, Baskcomb L et al: Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet 2008; 40: 1329\u20131334.","journal-title":"Nat Genet"},{"key":"BFejhg2011195_CR5","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/B978-0-12-380866-0.60006-X","volume":"70","author":"DH Lim","year":"2010","unstructured":"Lim DH, Maher ER : Genomic imprinting syndromes and cancer. Adv Genet 2010; 70: 145\u2013175.","journal-title":"Adv Genet"},{"key":"BFejhg2011195_CR6","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ejca.2005.07.027","volume":"42","author":"B Brichard","year":"2006","unstructured":"Brichard B, Heusterspreute M, De Potter P et al: Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation. Eur J Cancer 2006; 42: 65\u201372.","journal-title":"Eur J Cancer"},{"key":"BFejhg2011195_CR7","doi-asserted-by":"publisher","first-page":"2463","DOI":"10.1158\/1078-0432.CCR-08-2023","volume":"15","author":"ML Garre","year":"2009","unstructured":"Garre ML, Cama A, Bagnasco F et al: Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. Clin Cancer Res 2009; 15: 2463\u20132471.","journal-title":"Clin Cancer Res"},{"key":"BFejhg2011195_CR8","first-page":"514","volume":"24","author":"AG Knudson Jr","year":"1972","unstructured":"Knudson Jr AG, Strong LC : Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet 1972; 24: 514\u2013532.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011195_CR9","doi-asserted-by":"publisher","first-page":"1923","DOI":"10.1016\/S0959-8049(97)00265-7","volume":"33","author":"JM Maris","year":"1997","unstructured":"Maris JM, Kyemba SM, Rebbeck TR et al: Molecular genetic analysis of familial neuroblastoma. Eur J Cancer 1997; 33: 1923\u20131928.","journal-title":"Eur J Cancer"},{"key":"BFejhg2011195_CR10","first-page":"3421","volume":"56","author":"JM Maris","year":"1996","unstructured":"Maris JM, Kyemba SM, Rebbeck TR et al: Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res 1996; 56: 3421\u20133425.","journal-title":"Cancer Res"},{"key":"BFejhg2011195_CR11","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1038\/ng1130","volume":"33","author":"J Amiel","year":"2003","unstructured":"Amiel J, Laudier B, Attie-Bitach T et al: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003; 33: 459\u2013461.","journal-title":"Nat Genet"},{"key":"BFejhg2011195_CR12","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1086\/383253","volume":"74","author":"D Trochet","year":"2004","unstructured":"Trochet D, Bourdeaut F, Janoueix-Lerosey I et al: Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 2004; 74: 761\u2013764.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011195_CR13","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1086\/424530","volume":"75","author":"YP Mosse","year":"2004","unstructured":"Mosse YP, Laudenslager M, Khazi D et al: Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet 2004; 75: 727\u2013730.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011195_CR14","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.1164\/rccm.200602-305OC","volume":"174","author":"EM Berry-Kravis","year":"2006","unstructured":"Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE : Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006; 174: 1139\u20131144.","journal-title":"Am J Respir Crit Care Med"},{"key":"BFejhg2011195_CR15","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1002\/ajmg.a.31278","volume":"140","author":"C McConville","year":"2006","unstructured":"McConville C, Reid S, Baskcomb L, Douglas J, Rahman N : PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. Am J Med Genet A 2006; 140: 1297\u20131301.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2011195_CR16","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1038\/sj.onc.1210659","volume":"27","author":"EH Raabe","year":"2008","unstructured":"Raabe EH, Laudenslager M, Winter C et al: Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene 2008; 27: 469\u2013476.","journal-title":"Oncogene"},{"key":"BFejhg2011195_CR17","doi-asserted-by":"publisher","first-page":"9280","DOI":"10.1038\/sj.onc.1208157","volume":"23","author":"V van Limpt","year":"2004","unstructured":"van Limpt V, Schramm A, van Lakeman A et al: The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene 2004; 23: 9280\u20139288.","journal-title":"Oncogene"},{"key":"BFejhg2011195_CR18","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1038\/nature07398","volume":"455","author":"I Janoueix-Lerosey","year":"2008","unstructured":"Janoueix-Lerosey I, Lequin D, Brugieres L et al: Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature 2008; 455: 967\u2013970.","journal-title":"Nature"},{"key":"BFejhg2011195_CR19","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1038\/nature07261","volume":"455","author":"YP Mosse","year":"2008","unstructured":"Mosse YP, Laudenslager M, Longo L et al: Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 2008; 455: 930\u2013935.","journal-title":"Nature"},{"key":"BFejhg2011195_CR20","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1042\/BJ20081834","volume":"416","author":"H Caren","year":"2008","unstructured":"Caren H, Abel F, Kogner P, Martinsson T : High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. Biochem J 2008; 416: 153\u2013159.","journal-title":"Biochem J"},{"key":"BFejhg2011195_CR21","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1038\/nature07399","volume":"455","author":"Y Chen","year":"2008","unstructured":"Chen Y, Takita J, Choi YL et al: Oncogenic mutations of ALK kinase in neuroblastoma. Nature 2008; 455: 971\u2013974.","journal-title":"Nature"},{"key":"BFejhg2011195_CR22","doi-asserted-by":"publisher","first-page":"4353","DOI":"10.1158\/1078-0432.CCR-09-2660","volume":"16","author":"S De Brouwer","year":"2010","unstructured":"De Brouwer S, De Preter K, Kumps C et al: Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification. Clin Cancer Res 2010; 16: 4353\u20134362.","journal-title":"Clin Cancer Res"},{"key":"BFejhg2011195_CR23","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1038\/nature07397","volume":"455","author":"RE George","year":"2008","unstructured":"George RE, Sanda T, Hanna M et al: Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature 2008; 455: 975\u2013978.","journal-title":"Nature"},{"key":"BFejhg2011195_CR24","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/BF02388410","volume":"19","author":"JE Roshkow","year":"1988","unstructured":"Roshkow JE, Haller JO, Berdon WE, Sane SM : Hirschsprung's disease, Ondine's curse, and neuroblastoma--manifestations of neurocristopathy. Pediatr Radiol 1988; 19: 45\u201349.","journal-title":"Pediatr Radiol"},{"key":"BFejhg2011195_CR25","doi-asserted-by":"publisher","first-page":"1887","DOI":"10.1002\/1097-0142(19860501)57:9<1887::AID-CNCR2820570931>3.0.CO;2-7","volume":"57","author":"BH Kushner","year":"1986","unstructured":"Kushner BH, Gilbert F, Helson L : Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer 1986; 57: 1887\u20131893.","journal-title":"Cancer"},{"key":"BFejhg2011195_CR26","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1007\/s10689-009-9319-8","volume":"9","author":"F Abbaszadeh","year":"2010","unstructured":"Abbaszadeh F, Barker KT, McConville C, Scott RH, Rahman N : A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma. Fam Cancer 2010; 9: 425\u2013430.","journal-title":"Fam Cancer"},{"key":"BFejhg2011195_CR27","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1136\/jmg.2003.015412","volume":"41","author":"I Matera","year":"2004","unstructured":"Matera I, Bachetti T, Puppo F et al: PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet 2004; 41: 373\u2013380.","journal-title":"J Med Genet"},{"key":"BFejhg2011195_CR28","doi-asserted-by":"publisher","first-page":"4403","DOI":"10.1158\/0008-5472.CAN-10-4041","volume":"71","author":"AK Murugan","year":"2011","unstructured":"Murugan AK, Xing M : Anaplastic thyroid cancers harbor novel oncogenic mutations of the ALK gene. Cancer Res 2011; 71: 4403\u20134411.","journal-title":"Cancer Res"},{"key":"BFejhg2011195_CR29","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1002\/humu.21442","volume":"32","author":"L de Pontual","year":"2011","unstructured":"de Pontual L, Kettaneh D, Gordon C et al: Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat 2011; 32: 272\u2013276.","journal-title":"Hum Mutat"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011195.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011195","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011195.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:03:44Z","timestamp":1684429424000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2011195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,9]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["BFejhg2011195"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2011.195","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,9]]}}}