{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1390282763073567360.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.18976/jsft.7.2_97"}},{"identifier":{"@type":"NAID","@value":"130007534760"}},{"identifier":{"@type":"NAID","@value":"10024846265"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2008270635"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@language":"ja","@value":"<i>Patched-1</i> 遺伝子と母斑基底細胞癌症候群"},{"@language":"en","@value":"<i>Patched-1</i> and Nevoid Basal Cell Carcinoma Syndrome"}],"dc:language":"ja","description":[{"type":"abstract","notation":[{"@language":"en","@value":"Nevoid basal cell carcinoma syndrome （NBCCS; Gorlin syndrome）, an autosomal dominant disorder caused by mutations in <i>PTCH1</i>, is characterized by minor anomalies and a high incidence of tumors such as basal cell carcinoma（BCC）and medulloblastoma. We have identified <i>PTCH1</i> mutations in 21 out of 24 cases with NBCCS. More than half of the mutations comprised insertion/deletion of 1–4 nucleotides, resulting in frameshifts in coding. We also found splicing mutations and whole <i>PTCH1</i> deletions which were intractable to detect with conventional methods. The early genetic testing of suspected cases of NBCCS is advisable in the light of the following reasons: First, many symptoms develop with age, and it is not always easy to diagnose patients at an early age. Second, after radiation therapy for medulloblastoma, NBCCS patients develop secondary cancers in the irradiated areas; therefore, omitting or limiting radiation therapy should be considered. Third, a proper diagnosis with genetic testing helps in the early detection of medulloblastoma and also lessens the risk of developing BCCs by reducing ultraviolet radiation. Finally, emerging small molecule inhibitors of hedgehog signaling may be useful for treating patients with NBCCS-related tumors if potential adverse effects on embryonic and post-natal development are avoided."},{"@language":"ja","@value":"母斑基底細胞癌症候群（NBCCS，Gorlin 症候群）は骨格を中心とする小奇形と高発癌を特徴とする常染色体優性遺伝疾患である．頻度の高い腫瘍は基底細胞癌，歯原性腫瘍，髄芽腫等である．我々は診断基準を満たす症例の約90 ％で責任遺伝子<i>Pached-1</i> に変異を検出した．フレームシフトをおこす1 〜4 塩基の欠失・挿入が多いが，スプライス異常や遺伝子欠損といった通常の方法では見出せない変異もあった．臨床症状がそろわない小児では，倫理的配慮と遺伝カウンセリングの充実といった条件下で，腫瘍の予防，早期発見，生活指導に遺伝子診断は多くのメリットがある．"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1030003658392743040","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"60174182"},{"@type":"NRID","@value":"1000060174182"},{"@type":"NRID","@value":"9000014272680"},{"@type":"NRID","@value":"9000002555827"},{"@type":"NRID","@value":"9000399221992"},{"@type":"NRID","@value":"9000391520100"},{"@type":"NRID","@value":"9000379073230"},{"@type":"NRID","@value":"9000399227635"},{"@type":"NRID","@value":"9000399565979"},{"@type":"NRID","@value":"9000006029415"},{"@type":"NRID","@value":"9000010772914"},{"@type":"NRID","@value":"9000283532788"},{"@type":"NRID","@value":"9000020914270"},{"@type":"NRID","@value":"9000283532893"},{"@type":"NRID","@value":"9000006916511"},{"@type":"NRID","@value":"9000370759131"},{"@type":"NRID","@value":"9000398608926"}],"foaf:name":[{"@language":"ja","@value":"宮下 俊之"},{"@language":"en","@value":"Miyashita Toshiyuki"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Genetics, National Research Institute for Child Health and Development"},{"@language":"ja","@value":"国立成育医療センター研究所 成育遺伝研究部"}]},{"@id":"https://cir.nii.ac.jp/crid/1420282801189370496","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"70344992"},{"@type":"NRID","@value":"1000070344992"},{"@type":"NRID","@value":"9000006954412"},{"@type":"NRID","@value":"9000311068418"},{"@type":"NRID","@value":"9000014170301"},{"@type":"NRID","@value":"9000412158894"},{"@type":"NRID","@value":"9000399221997"},{"@type":"NRID","@value":"9000283121731"},{"@type":"NRID","@value":"9000014279820"},{"@type":"NRID","@value":"9000016400162"},{"@type":"NRID","@value":"9000399227636"},{"@type":"NRID","@value":"9000283719497"},{"@type":"NRID","@value":"9000255730053"},{"@type":"NRID","@value":"9000256117837"},{"@type":"NRID","@value":"9000002029674"},{"@type":"NRID","@value":"9000000436395"},{"@type":"NRID","@value":"9000412333799"},{"@type":"NRID","@value":"9000309565054"},{"@type":"NRID","@value":"9000273026007"},{"@type":"NRID","@value":"9000107387444"},{"@type":"NRID","@value":"9000413475544"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0206295"}],"foaf:name":[{"@language":"ja","@value":"藤井 克則"},{"@language":"en","@value":"Fujii Katsunori"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Pediatrics, Chiba University Graduate School of Medicine"},{"@language":"ja","@value":"千葉大学大学院医学研究院小児病態学"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"13461052"},{"@type":"EISSN","@value":"21896674"}],"prism:publicationName":[{"@language":"ja","@value":"家族性腫瘍"},{"@language":"en","@value":"JOURNAL OF FAMILIAL TUMORS"},{"@language":"ja","@value":"家族性腫瘍"},{"@language":"en","@value":"JOURNAL OF FAMILIAL TUMORS"}],"dc:publisher":[{"@language":"en","@value":"The Japanese Society for Hereditary Tumors"},{"@language":"ja","@value":"一般社団法人日本遺伝性腫瘍学会"}],"prism:publicationDate":"2007","prism:volume":"7","prism:number":"2","prism:startingPage":"97","prism:endingPage":"101"},"url":[{"@id":"https://search.jamas.or.jp/link/ui/2008270635"}],"availableAt":"2007","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=%E7%99%8C%E6%8A%91%E5%88%B6%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%8C%3Ci%3EPTCH1%3C/i%3E%20%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%8C%E5%9F%BA%E5%BA%95%E7%B4%B0%E8%83%9E%E7%99%8C%EF%BC%8C%E9%AB%84%E8%8A%BD%E8%85%AB%EF%BC%8C%E9%81%BA%E4%BC%9D%E5%AD%90%E6%AC%A0%E6%90%8D%EF%BC%8C%E3%83%98%E3%83%83%E3%82%B8%E3%83%9B%E3%83%83%E3%82%B0%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB","dc:title":"癌抑制遺伝子，<i>PTCH1</i> 遺伝子，基底細胞癌，髄芽腫，遺伝子欠損，ヘッジホッグシグナル"},{"@id":"https://cir.nii.ac.jp/all?q=tumor%20suppressor%20gene,%20%3Ci%3EPTCH1%3C/i%3E,%20basal%20cell%20carcinoma,%20medulloblastoma,%20genomic%20deletion,%20hedgehog%20signaling","dc:title":"tumor suppressor gene, <i>PTCH1</i>, basal cell carcinoma, medulloblastoma, genomic deletion, hedgehog signaling"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040000781984532992","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"18591177"},{"@type":"JGN","@value":"JP18591177"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18591177/"}],"notation":[{"@language":"ja","@value":"全前脳症の遺伝子解析と発症に影響を与える遺伝子多型の解析"},{"@language":"en","@value":"Molecular Genetics of Holoprosencephaly"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1390001205519353728","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"ja","@value":"ヘッジホッグと形態形成"},{"@language":"en","@value":"Hedgehog Signaling Pathway and Human Disorders"}]}],"dataSourceIdentifier":[{"@type":"JALC","@value":"oai:japanlinkcenter.org:2006125098"},{"@type":"CIA","@value":"130007534760"},{"@type":"CIA","@value":"10024846265"},{"@type":"KAKEN","@value":"PRODUCT-19354688"}]}