2018
DOI: 10.1097/scs.0000000000004274
|View full text |Cite
|
Sign up to set email alerts
|

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome

Abstract: The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Recurrence and/or de novo development of KOT were assessed. Gene ana… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1

Citation Types

3
5
0

Year Published

2020
2020
2022
2022

Publication Types

Select...
4
1

Relationship

0
5

Authors

Journals

citations
Cited by 7 publications
(8 citation statements)
references
References 24 publications
3
5
0
Order By: Relevance
“…Based on our previous studies, as well as reports from other groups, more than 80% of OKCs, both syndromic and sporadic, harbor PTCH1 mutations. 9 The results of 10 samples of OKCs with PTCH1 mutations as positive control was identical to previous result by our group. 28 In contrast, PTCH1 mutations were not detected in 14 OOCs by sequencing analysis using frozen specimens of the lining epithelium separated from the fibrous capsules.…”
Section: T a B L E 1 Results Of Follow-upsupporting
confidence: 88%
See 3 more Smart Citations
“…Based on our previous studies, as well as reports from other groups, more than 80% of OKCs, both syndromic and sporadic, harbor PTCH1 mutations. 9 The results of 10 samples of OKCs with PTCH1 mutations as positive control was identical to previous result by our group. 28 In contrast, PTCH1 mutations were not detected in 14 OOCs by sequencing analysis using frozen specimens of the lining epithelium separated from the fibrous capsules.…”
Section: T a B L E 1 Results Of Follow-upsupporting
confidence: 88%
“…Based on our previous studies, as well as reports from other groups, more than 80% of OKCs, both syndromic and sporadic, harbor PTCH1 mutations 9 . The results of 10 samples of OKCs with PTCH1 mutations as positive control was identical to previous result by our group 28 .…”
Section: Discussionsupporting
confidence: 88%
See 2 more Smart Citations
“…A range of tumor suppressor genes and proto-oncogenes have implicated in the pathogenesis of BCC, including the Hedgehog signaling components PTCH1 and SMO, TP53 (a tumor suppressor regulating the transition of the cell from G1 phase to S phase), and components of the RAS signaling cascade. 15 Consistent with findings reported in BCC, 9,[16][17][18][19] PTCH1 (14/31) and SMO (7/31) mutations were prevalent in our study population (Fig. 3C).…”
Section: Discussionsupporting
confidence: 91%