1. Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
- Author
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Moon Woo Seong, Keunyoung Hur, Seong Jin Jo, Sung Sup Park, Man Jin Kim, Boram Kim, Jung Min Ko, and Je-Ho Mun
- Subjects
Adult ,Male ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,Science ,Nevoid basal-cell carcinoma syndrome ,Genetic analysis ,Article ,Young Adult ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Republic of Korea ,Exome Sequencing ,medicine ,Skin cancer ,Humans ,Child ,Exome sequencing ,Aged ,Multidisciplinary ,business.industry ,Basal Cell Nevus Syndrome ,PTCH1 Gene ,Genetic Profile ,Middle Aged ,University hospital ,medicine.disease ,Dermatology ,Patched-1 Receptor ,PTCH2 ,stomatognathic diseases ,Phenotype ,DNA profiling ,PTCH1 ,Carcinoma, Basal Cell ,030220 oncology & carcinogenesis ,Next-generation sequencing ,Medicine ,Female ,business - Abstract
Nevoid 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.
- Published
- 2021