{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T23:17:00Z","timestamp":1791155820646,"version":"4.1.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T00:00:00Z","timestamp":1343174400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1007\/s10689-012-9548-0","type":"journal-article","created":{"date-parts":[[2012,7,24]],"date-time":"2012-07-24T11:30:15Z","timestamp":1343129415000},"page":"565-570","source":"Crossref","is-referenced-by-count":64,"title":["Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation"],"prefix":"10.1007","volume":"11","author":[{"given":"Chihiro","family":"Kijima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Miyashita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maiko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehiro","family":"Oka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyotaka","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,7,25]]},"reference":[{"key":"9548_CR1","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1056\/NEJM196005052621803","volume":"262","author":"RJ Gorlin","year":"1960","unstructured":"Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib a syndrome. N Engl J Med 262:908\u2013912","journal-title":"N Engl J Med"},{"key":"9548_CR2","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jmg.30.6.460","volume":"30","author":"DG Evans","year":"1993","unstructured":"Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460\u2013464","journal-title":"J Med Genet"},{"key":"9548_CR3","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.1320500312","volume":"50","author":"S Shanley","year":"1994","unstructured":"Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282\u2013290","journal-title":"Am J Med Genet"},{"key":"9548_CR4","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M","volume":"69","author":"VE Kimonis","year":"1997","unstructured":"Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299\u2013308","journal-title":"Am J Med Genet"},{"key":"9548_CR5","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/ajmg.a.34421","volume":"158A","author":"M Endo","year":"2012","unstructured":"Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T (2012) Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma. Am J Med Genet A 158A:351\u2013357","journal-title":"Am J Med Genet A"},{"key":"9548_CR6","doi-asserted-by":"crossref","first-page":"665","DOI":"10.2176\/nmc.44.665","volume":"44","author":"Y Fukushima","year":"2004","unstructured":"Fukushima Y, Oka H, Utsuki S, Iwamoto K, Fujii K (2004) Nevoid Basal cell carcinoma syndrome with medulloblastoma and meningioma\u2014case report. Neurol Med Chir (Tokyo) 44:665\u2013668","journal-title":"Neurol Med Chir (Tokyo)"},{"key":"9548_CR7","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/WNO.0b013e318167540e","volume":"28","author":"JT Pribila","year":"2008","unstructured":"Pribila JT, Ronan SM, Trobe JD (2008) Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. J Neuroophthalmol 28:41\u201346","journal-title":"J Neuroophthalmol"},{"key":"9548_CR8","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.272.5268.1668","volume":"272","author":"RL Johnson","year":"1996","unstructured":"Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668\u20131671","journal-title":"Science"},{"key":"9548_CR9","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/S0092-8674(00)81268-4","volume":"85","author":"H Hahn","year":"1996","unstructured":"Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841\u2013851","journal-title":"Cell"},{"key":"9548_CR10","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1101\/gad.938601","volume":"15","author":"PW Ingham","year":"2001","unstructured":"Ingham PW, McMahon AP (2001) Hedgehog signaling in animal development: paradigms and principles. Genes Dev 15:3059\u20133087","journal-title":"Genes Dev"},{"key":"9548_CR11","doi-asserted-by":"crossref","first-page":"5116","DOI":"10.1074\/jbc.M209492200","volume":"278","author":"M Dunaeva","year":"2003","unstructured":"Dunaeva M, Michelson P, Kogerman P, Toftgard R (2003) Characterization of the physical interaction of gli proteins with SUFU proteins. J Biol Chem 278:5116\u20135122","journal-title":"J Biol Chem"},{"key":"9548_CR12","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.devcel.2005.12.013","volume":"10","author":"J Sv\u00e4rd","year":"2006","unstructured":"Sv\u00e4rd J, Heby-Henricson K, Persson-Lek M, Rozell B, Lauth M, Bergstr\u00f6m A, Ericson J, Toftg\u00e5rd R, Teglund S (2006) Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. Dev Cell 10:187\u2013197","journal-title":"Dev Cell"},{"key":"9548_CR13","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/humu.9132","volume":"21","author":"K Fujii","year":"2003","unstructured":"Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K, Furue M, Yamada M, Miyashita T (2003) Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. Hum Mutat 21:451\u2013452","journal-title":"Hum Mutat"},{"key":"9548_CR14","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1073\/pnas.68.4.820","volume":"68","author":"AG Knudson Jr","year":"1971","unstructured":"Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820\u2013823","journal-title":"Proc Natl Acad Sci USA"},{"key":"9548_CR15","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/34201","volume":"391","author":"J Xie","year":"1998","unstructured":"Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EHJ, de Sauvage FJ (1998) Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391:90\u201392","journal-title":"Nature"},{"key":"9548_CR16","first-page":"279","volume":"35","author":"HJ Tamoney Jr","year":"1969","unstructured":"Tamoney HJ Jr (1969) Basal cell nevoid syndrome. Am Surg 35:279\u2013283","journal-title":"Am Surg"},{"key":"9548_CR17","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/0030-4220(73)90141-2","volume":"36","author":"PJ Stoelinga","year":"1973","unstructured":"Stoelinga PJ, Peters JH, van de Staak WJ, Cohen MM Jr (1973) Some new findings in the basal-cell nevus syndrome. Oral Surg Oral Med Oral Pathol 36:686\u2013692","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"9548_CR18","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1002\/1097-0142(197912)44:6<2294::AID-CNCR2820440644>3.0.CO;2-G","volume":"44","author":"GJ Southwick","year":"1979","unstructured":"Southwick GJ, Schwartz RA (1979) The basal cell nevus syndrome: disasters occurring among a series of 36 patients. Cancer 44:2294\u20132305","journal-title":"Cancer"},{"key":"9548_CR19","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1136\/jnnp.47.2.210","volume":"47","author":"PS Mortimer","year":"1984","unstructured":"Mortimer PS, Geaney DP, Liddell K, Dawber RP (1984) Basal cell naevus syndrome and intracranial meningioma. J Neurol Neurosurg Psychiatry 47:210\u2013212","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"9548_CR20","first-page":"2105","volume":"15","author":"O Aumaitre","year":"1986","unstructured":"Aumaitre O, Sampoux P, Georget AM, Mondie JM, Thieblot P, Dordain G (1986) Neurologic manifestations of basal cell nevomatosis. A case. Presse Med 15:2105\u20132107","journal-title":"A case. Presse Med"},{"key":"9548_CR21","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/0002-8703(86)90664-2","volume":"111","author":"KL Jones","year":"1986","unstructured":"Jones KL, Wolf PL, Jensen P, Dittrich H, Benirschke K, Bloor C (1986) The Gorlin syndrome: a genetically determined disorder associated with cardiac tumor. Am Heart J 111:1013\u20131015","journal-title":"Am Heart J"},{"key":"9548_CR22","first-page":"466","volume":"81","author":"S Albrecht","year":"1994","unstructured":"Albrecht S, Goodman JC, Rajagopolan S, Levy M, Cech DA, Cooley LD (1994) Malignant meningioma in Gorlin\u2019s syndrome: cytogenetic and p53 gene analysis. Case report. J Neurosurg 81:466\u2013471","journal-title":"Case report. J Neurosurg"},{"key":"9548_CR23","first-page":"286","volume":"86","author":"S O\u2019Malley","year":"1997","unstructured":"O\u2019Malley S, Weitman D, Olding M, Sekhar L (1997) Multiple neoplasms following craniospinal irradiation for medulloblastoma in a patient with nevoid basal cell carcinoma syndrome. Case report. J Neurosurg 86:286\u2013288","journal-title":"Case report. J Neurosurg"},{"key":"9548_CR24","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/jjco\/hyg005","volume":"33","author":"G Tate","year":"2003","unstructured":"Tate G, Li M, Suzuki T, Mitsuya T (2003) A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. Jpn J Clin Oncol 33:47\u201350","journal-title":"Jpn J Clin Oncol"},{"key":"9548_CR25","doi-asserted-by":"crossref","first-page":"S256","DOI":"10.1016\/j.jaad.2005.03.033","volume":"53","author":"RM Campbell","year":"2005","unstructured":"Campbell RM, Mader RD, Dufresne RG Jr (2005) Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. J Am Acad Dermatol 53:S256\u2013S259","journal-title":"J Am Acad Dermatol"},{"key":"9548_CR26","doi-asserted-by":"crossref","first-page":"643","DOI":"10.3109\/02688699109002890","volume":"5","author":"DG Evans","year":"1991","unstructured":"Evans DG, Birch JM, Orton CI (1991) Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome. Br J Neurosurg 5:643\u2013646","journal-title":"Br J Neurosurg"},{"key":"9548_CR27","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng916","volume":"31","author":"MD Taylor","year":"2002","unstructured":"Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D (2002) Mutations in SUFU predispose to medulloblastoma. Nat Genet 31:306\u2013310","journal-title":"Nat Genet"},{"key":"9548_CR28","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1002\/ajmg.a.32944","volume":"149A","author":"L Pastorino","year":"2009","unstructured":"Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garr\u00e8 ML, Clementi M, Scarr\u00e0 GB (2009) Identification of a SUFU germline mutation in a family with gorlin syndrome. Am J Med Genet A 149A:1539\u20131543","journal-title":"Am J Med Genet A"},{"key":"9548_CR29","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1038\/bjc.1991.435","volume":"64","author":"DG Evans","year":"1991","unstructured":"Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM (1991) The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64:959\u2013961","journal-title":"Br J Cancer"},{"key":"9548_CR30","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1002\/cncr.11537","volume":"98","author":"SF Amlashi","year":"2003","unstructured":"Amlashi SF, Riffaud L, Brassier G, Morandi X (2003) Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer 98:618\u2013624","journal-title":"Cancer"},{"key":"9548_CR31","first-page":"472","volume":"146","author":"D Schofield","year":"1995","unstructured":"Schofield D, West DC, Anthony DC, Marshal R, Sklar J (1995) Correlation of loss of heterozygosity at chromosome 9q with histological subtype in medulloblastomas. Am J Pathol 146:472\u2013480","journal-title":"Am J Pathol"},{"key":"9548_CR32","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/bjc.1997.354","volume":"76","author":"R Cowan","year":"1997","unstructured":"Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG (1997) The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 76:141\u2013145","journal-title":"Br J Cancer"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-012-9548-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-012-9548-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-012-9548-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:46:08Z","timestamp":1559252768000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-012-9548-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,25]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["9548"],"URL":"https:\/\/doi.org\/10.1007\/s10689-012-9548-0","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,25]]}}}