{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T23:16:19Z","timestamp":1791155779964,"version":"4.1.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2013,3,12]],"date-time":"2013-03-12T00:00:00Z","timestamp":1363046400000},"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":[[2013,12]]},"DOI":"10.1007\/s10689-013-9623-1","type":"journal-article","created":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T08:20:12Z","timestamp":1362990012000},"page":"611-614","source":"Crossref","is-referenced-by-count":69,"title":["Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome"],"prefix":"10.1007","volume":"12","author":[{"given":"Katsunori","family":"Fujii","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maiko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Hatsuse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Shiohama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Uchikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Miyashita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,3,12]]},"reference":[{"key":"9623_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. Medicine (Baltimore) 66:98\u2013113","journal-title":"Medicine (Baltimore)"},{"key":"9623_CR2","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":"9623_CR3","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":"9623_CR4","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":"9623_CR5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/8.2.291","volume":"8","author":"I Smyth","year":"1999","unstructured":"Smyth I, Narang MA, Evans T, Heimann C, Nakamura Y, Chenevix-Trench G, Pietsch T, Wicking C, Wainwright BJ (1999) Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. Hum Mol Genet 8:291\u2013297","journal-title":"Hum Mol Genet"},{"key":"9623_CR6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmg.2007.055343","volume":"45","author":"Z Fan","year":"2008","unstructured":"Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S (2008) A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet 45:303\u2013308","journal-title":"J Med Genet"},{"key":"9623_CR7","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":"9623_CR8","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":"9623_CR9","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":"9623_CR10","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":"9623_CR11","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1399-0004.2010.01527.x","volume":"79","author":"K Nagao","year":"2011","unstructured":"Nagao K, Fujii K, Saito K, Sugita K, Endo M, Motojima T, Hatsuse H, Miyashita T (2011) Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan. Clin Genet 79:196\u2013198","journal-title":"Clin Genet"},{"key":"9623_CR12","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s00439-007-0419-y","volume":"122","author":"K Fujii","year":"2007","unstructured":"Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T (2007) High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet 122:459\u2013466","journal-title":"Hum Genet"},{"key":"9623_CR13","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1002\/ajmg.a.35412","volume":"158A","author":"R Kosaki","year":"2012","unstructured":"Kosaki R, Nagao K, Kameyama K, Suzuki M, Fujii K, Miyashita T (2012) Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome. Am J Med Genet A 158A:1724\u20131728","journal-title":"Am J Med Genet A"},{"key":"9623_CR14","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":"9623_CR15","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, Garre ML, Clementi M, Scarra 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":"9623_CR16","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","volume":"36","author":"JA Holbrook","year":"2004","unstructured":"Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE (2004) Nonsense-mediated decay approaches the clinic. Nat Genet 36:801\u2013808","journal-title":"Nat Genet"},{"key":"9623_CR17","doi-asserted-by":"crossref","first-page":"6609","DOI":"10.1128\/MCB.00295-06","volume":"26","author":"E Nieuwenhuis","year":"2006","unstructured":"Nieuwenhuis E, Motoyama J, Barnfield PC, Yoshikawa Y, Zhang X, Mo R, Crackower MA, Hui CC (2006) Mice with a targeted mutation of patched2 are viable but develop alopecia and epidermal hyperplasia. Mol Cell Biol 26:6609\u20136622","journal-title":"Mol Cell Biol"},{"key":"9623_CR18","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1126\/science.277.5329.1109","volume":"277","author":"LV Goodrich","year":"1997","unstructured":"Goodrich LV, Milenkovic L, Higgins KM, Scott MP (1997) Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 277:1109\u20131113","journal-title":"Science"},{"key":"9623_CR19","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":"9623_CR20","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\u2013phenotype correlations are evident. Am J Hum Genet 60:21\u201326","journal-title":"Am J Hum Genet"},{"key":"9623_CR21","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1136\/jmg.2009.067751","volume":"47","author":"L Brugieres","year":"2010","unstructured":"Brugieres L, Pierron G, Chompret A, Paillerets BB, Di Rocco F, Varlet P, Pierre-Kahn A, Caron O, Grill J, Delattre O (2010) Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. J Med Genet 47:142\u2013144","journal-title":"J Med Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-013-9623-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-013-9623-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-013-9623-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:46:10Z","timestamp":1559252770000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-013-9623-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,12]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["9623"],"URL":"https:\/\/doi.org\/10.1007\/s10689-013-9623-1","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,12]]}}}