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PTCH1 and SMO gene alterations in keratocystic odontogenic tumors
Sun, L. -S.; Li, X. -F.; Li, T. -J.
关键词PTCH1 SMO nevoid basal cell carcinoma syndrome keratocystic odontogenic tumors PTCH
刊名JOURNAL OF DENTAL RESEARCH
2008-06-01
87期:6页:575-579
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dentistry, Oral Surgery & Medicine
研究领域[WOS]Dentistry, Oral Surgery & Medicine
关键词[WOS]BASAL-CELL CARCINOMA ; PRIMITIVE NEUROECTODERMAL TUMORS ; CENTRAL-NERVOUS-SYSTEM ; GERM-LINE MUTATIONS ; HUMAN HOMOLOG ; GORLIN-SYNDROME ; NEVUS SYNDROME ; 1ST EXONS ; SUPPRESSOR ; SKIN
英文摘要

Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive jaw lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS). Mutations in the PTCH1 (PTCH) gene are responsible for NBCCS and are related in tumors associated with this syndrome. Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS. To clarify the role of PTCH1 and SMO in KCOTs, we undertook mutational analysis of PTCH1 and SMO in 20 sporadic and 10 NBCCS-associated KCOTs, and for SMO, 20 additional cases of KCOTs with known PTCH1 status were also included. Eleven novel (1 of which occurred twice) and 5 known PTCH1 mutations were identified. However, no pathogenic mutation was detected in SMO. Our findings suggest that mutations are rare in SMO, but frequent in PTCH1 in sporadic and NBCCS-associated KCOTs. Abbreviations: NBCCS, nevoid basal cell carcinoma syndrome; KCOTs, keratocystic odontogenic tumors; BCCs, basal cell carcinomas.

语种英语
WOS记录号WOS:000256090300013
引用统计
被引频次:39[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61808
专题北京大学口腔医学院_口腔病理科
作者单位Peking Univ, Dept Oral Pathol, Hosp & Sch Stomatol, Beijing 100081, Peoples R China
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Sun, L. -S.,Li, X. -F.,Li, T. -J.. PTCH1 and SMO gene alterations in keratocystic odontogenic tumors[J]. JOURNAL OF DENTAL RESEARCH,2008,87(6):575-579.
APA Sun, L. -S.,Li, X. -F.,&Li, T. -J..(2008).PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.JOURNAL OF DENTAL RESEARCH,87(6),575-579.
MLA Sun, L. -S.,et al."PTCH1 and SMO gene alterations in keratocystic odontogenic tumors".JOURNAL OF DENTAL RESEARCH 87.6(2008):575-579.
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