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学科主题: 口腔医学
题名:
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors
作者: 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
发表日期: 2008-06-01
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61808
Appears in Collections:北京大学口腔医学院_口腔病理科_期刊论文

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作者单位: Peking Univ, Dept Oral Pathol, Hosp & Sch Stomatol, Beijing 100081, Peoples R China

Recommended Citation:
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.
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