{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T17:28:43Z","timestamp":1775064523984,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,8,25]],"date-time":"2016-08-25T00:00:00Z","timestamp":1472083200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Ministry of Education, Culture, Sports, Science, and Technology (JP)","award":["26461530"],"award-info":[{"award-number":["26461530"]}]},{"name":"Ministry of Education, Culture, Sports, Science, and Technology (JP)","award":["15K19041"],"award-info":[{"award-number":["15K19041"]}]},{"name":"Ministry of Education, Culture, Sports, Science, and Technology (JP)","award":["16K09960"],"award-info":[{"award-number":["16K09960"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1007\/s10689-016-9924-2","type":"journal-article","created":{"date-parts":[[2016,8,25]],"date-time":"2016-08-25T04:41:13Z","timestamp":1472100073000},"page":"131-138","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene"],"prefix":"10.1007","volume":"16","author":[{"given":"Chise","family":"Kato","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kentaro","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuto","family":"Arai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Hatsuse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuaki","family":"Nagao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinaga","family":"Takayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kouzou","family":"Kameyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsunori","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0929-4629","authenticated-orcid":false,"given":"Toshiyuki","family":"Miyashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,8,25]]},"reference":[{"key":"9924_CR1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1097\/00005792-198703000-00002","volume":"66","author":"RJ Gorlin","year":"1987","unstructured":"Gorlin RJ (1987) Nevoid basal-cell carcinoma syndrome. Med (Baltim) 66:98\u2013113","journal-title":"Med (Baltim)"},{"key":"9924_CR2","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","volume":"152A","author":"DG Evans","year":"2010","unstructured":"Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152A:327\u2013332","journal-title":"Am J Med Genet A"},{"key":"9924_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":"9924_CR4","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":"9924_CR5","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s10689-013-9623-1","volume":"12","author":"K Fujii","year":"2013","unstructured":"Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T (2013) Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Fam Cancer 12:611\u2013614","journal-title":"Fam Cancer"},{"key":"9924_CR6","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s10689-012-9548-0","volume":"11","author":"C Kijima","year":"2012","unstructured":"Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K (2012) Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Fam Cancer 11:565\u2013570","journal-title":"Fam Cancer"},{"key":"9924_CR7","doi-asserted-by":"crossref","first-page":"4155","DOI":"10.1200\/JCO.2014.58.2569","volume":"32","author":"MJ Smith","year":"2014","unstructured":"Smith MJ, Beetz C, Williams SG, Bhaskar SS, O\u2019Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG (2014) Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol 32:4155\u20134161","journal-title":"J Clin Oncol"},{"key":"9924_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":"9924_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":"9924_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":"9924_CR11","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","volume":"90","author":"M Krawczak","year":"1992","unstructured":"Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41\u201354","journal-title":"Hum Genet"},{"key":"9924_CR12","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s10689-014-9712-9","volume":"13","author":"Z Bholah","year":"2014","unstructured":"Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG (2014) Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Fam Cancer 13:477\u2013480","journal-title":"Fam Cancer"},{"key":"9924_CR13","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":"9924_CR14","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/j.oooo.2013.06.017","volume":"116","author":"M Suzuki","year":"2013","unstructured":"Suzuki M, Nagao K, Hatsuse H, Sasaki R, Saito K, Fujii K, Miyashita T (2013) Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 116:348\u2013353","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"9924_CR15","doi-asserted-by":"crossref","first-page":"R196","DOI":"10.1016\/S0960-9822(02)00747-9","volume":"12","author":"LE Maquat","year":"2002","unstructured":"Maquat LE (2002) Nonsense-mediated mRNA decay. Curr Biol 12:R196\u2013R197","journal-title":"Curr Biol"},{"key":"9924_CR16","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","volume":"15","author":"MB Shapiro","year":"1987","unstructured":"Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155\u20137174","journal-title":"Nucleic Acids Res"},{"key":"9924_CR17","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1261\/rna.5196404","volume":"10","author":"I Carmel","year":"2004","unstructured":"Carmel I, Tal S, Vig I, Ast G (2004) Comparative analysis detects dependencies among the 5\u2032 splice-site positions. RNA 10:828\u2013840","journal-title":"RNA"},{"key":"9924_CR18","first-page":"21","volume":"60","author":"C Wicking","year":"1997","unstructured":"Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G (1997) Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60:21\u201326","journal-title":"Am J Hum Genet"},{"key":"9924_CR19","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1093\/nar\/29.1.255","volume":"29","author":"M Burset","year":"2001","unstructured":"Burset M, Seledtsov IA, Solovyev VV (2001) SpliceDB: database of canonical and non-canonical mammalian splice sites. Nucleic Acids Res 29:255\u2013259","journal-title":"Nucleic Acids Res"},{"key":"9924_CR20","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1086\/302418","volume":"64","author":"SN Teraoka","year":"1999","unstructured":"Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengut S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P (1999) Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 64:1617\u20131631","journal-title":"Am J Hum Genet"},{"key":"9924_CR21","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2215\/CJN.04140414","volume":"9","author":"K Nozu","year":"2014","unstructured":"Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K (2014) X-linked Alport syndrome caused by splicing mutations in COL4A5. Clin J Am Soc Nephrol 9:1958\u20131964","journal-title":"Clin J Am Soc Nephrol"},{"key":"9924_CR22","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7","volume":"16","author":"J Dong","year":"2000","unstructured":"Dong J, Gailani MR, Pomeroy SL, Reardon D, Bale AE (2000) Identification of PATCHED mutations in medulloblastomas by direct sequencing. Hum Mutat 16:89\u201390","journal-title":"Hum Mutat"},{"key":"9924_CR23","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/humu.9317","volume":"25","author":"L Pastorino","year":"2005","unstructured":"Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G (2005) Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat 25:322\u2013323","journal-title":"Hum Mutat"},{"key":"9924_CR24","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1007\/s004390050747","volume":"102","author":"I Smyth","year":"1998","unstructured":"Smyth I, Wicking C, Wainwright B, Chenevix-Trench G (1998) The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome. Hum Genet 102:598\u2013601","journal-title":"Hum Genet"},{"key":"9924_CR25","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ebiom.2016.04.005","volume":"7","author":"DG Evans","year":"2016","unstructured":"Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W, Northern UK, Huson SM, NF1 Research Network (2016) Comprehensive RNA analysis of the NF1 gene in classically affected NF1 affected individuals meeting NIH criteria has high sensitivity and mutation negative testing is reassuring in isolated cases with pigmentary features only. EBioMedicine 7:212\u2013220","journal-title":"EBioMedicine"},{"key":"9924_CR26","doi-asserted-by":"crossref","first-page":"e50800","DOI":"10.1371\/journal.pone.0050800","volume":"7","author":"B Wappenschmidt","year":"2012","unstructured":"Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, K\u00f6hler J, Kast K, Arnold N, Rhiem K, Hahnen E, Meindl A, Schmutzler RK (2012) Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. PLoS ONE 7:e50800","journal-title":"PLoS ONE"},{"key":"9924_CR27","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","volume":"3","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285\u2013298","journal-title":"Nat Rev Genet"},{"key":"9924_CR28","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/s10038-007-0192-8","volume":"52","author":"H Uchikawa","year":"2007","unstructured":"Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T (2007) U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites. J Hum Genet 52:891\u2013897","journal-title":"J Hum Genet"},{"key":"9924_CR29","doi-asserted-by":"crossref","first-page":"6007","DOI":"10.1073\/pnas.0608616104","volume":"104","author":"L Du","year":"2007","unstructured":"Du L, Pollard JM, Gatti RA (2007) Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci USA 104:6007\u20136012","journal-title":"Proc Natl Acad Sci USA"},{"key":"9924_CR30","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/nature10456","volume":"478","author":"M Taniguchi-Ikeda","year":"2011","unstructured":"Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T (2011) Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478:127\u2013131","journal-title":"Nature"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9924-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-016-9924-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9924-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9924-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,24]],"date-time":"2017-06-24T17:21:14Z","timestamp":1498324874000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-016-9924-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,25]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["9924"],"URL":"https:\/\/doi.org\/10.1007\/s10689-016-9924-2","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,25]]}}}