scholarly journals Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data

2018 ◽  
Vol 6 (6) ◽  
pp. 1168-1180 ◽  
Author(s):  
D. Matthew Gianferante ◽  
Melissa Rotunno ◽  
Michael Dean ◽  
Weiyin Zhou ◽  
Belynda D. Hicks ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Basal Cell ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Whole Exome ◽  
Mutation Database

scholarly journals Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Boram Kim ◽  
Man Jin Kim ◽  
Keunyoung Hur ◽  
Seong Jin Jo ◽  
Jung Min Ko ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Basal Cell ◽  
University Hospital ◽  
Genetic Profiling ◽  
Korean Patients ◽  
Pathogenic Variants ◽  
Whole Exome

AbstractNevoid basal cell carcinoma syndrome (NBCCS) is mainly characterised by multiple basal cell carcinomas (BCCs) caused by PTCH1, PTCH2, and SUFU. However, clinical and genetic data on Asian NBCCS patients are limited. We aimed to analyse the clinical phenotypes and genetic spectrum of Korean patients with NBCCS. Fifteen patients with NBCCS at Seoul National University Hospital were included, and their clinical data were analysed. Whole-exome sequencing and/or multiplex ligation-dependent probe amplification using peripheral blood were performed to identify genetic causes. Genetic analysis revealed that 73.3% (11/15) of the patients carried 9 pathogenic variants, only in the PTCH1 gene. Variants of uncertain significance (VUS) and likely benign were also detected in 2 (13.3%) and 2 (13.3%) patients, respectively. BCCs were found in the majority of the cases (93.3%) and the number of BCCs increased with age (ρ = 0.595, P = 0.019). This study revealed that PTCH1 pathogenic variants were the main cause of NBCCS in Korean patients. As BCCs are commonly detected, a periodic dermatologic examination is recommended. Finally, our results support the addition of genetic screening to the existing criteria for NBCCS diagnosis.

Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population

2017 ◽  
Vol 21 (1) ◽  
pp. 161-168 ◽  
Author(s):  
Nanhang Lu ◽  
Jinzeng Wang ◽  
Bijun Zhu ◽  
Miaomiao Zhang ◽  
Fazhi Qi ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Basal Cell ◽  
Chinese Population ◽  
Novel Mutations ◽  
Whole Exome
Sign in / Sign up

Export Citation Format

Share Document