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

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...

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Autores principales:	Boram Kim, Man Jin Kim, Keunyoung Hur, Seong Jin Jo, Jung Min Ko, Sung Sup Park, Moon-Woo Seong, Je-Ho Mun
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1ef064c1e12449ab94b18a2e93145e92
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spelling	oai:doaj.org-article:1ef064c1e12449ab94b18a2e93145e922021-12-02T14:01:34ZClinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing10.1038/s41598-020-80867-02045-2322https://doaj.org/article/1ef064c1e12449ab94b18a2e93145e922021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-80867-0https://doaj.org/toc/2045-2322Abstract 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.Boram KimMan Jin KimKeunyoung HurSeong Jin JoJung Min KoSung Sup ParkMoon-Woo SeongJe-Ho MunNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Boram Kim Man Jin Kim Keunyoung Hur Seong Jin Jo Jung Min Ko Sung Sup Park Moon-Woo Seong Je-Ho Mun Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
description	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.
format	article
author	Boram Kim Man Jin Kim Keunyoung Hur Seong Jin Jo Jung Min Ko Sung Sup Park Moon-Woo Seong Je-Ho Mun
author_facet	Boram Kim Man Jin Kim Keunyoung Hur Seong Jin Jo Jung Min Ko Sung Sup Park Moon-Woo Seong Je-Ho Mun
author_sort	Boram Kim
title	Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
title_short	Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
title_full	Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
title_fullStr	Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
title_full_unstemmed	Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
title_sort	clinical and genetic profiling of nevoid basal cell carcinoma syndrome in korean patients by whole-exome sequencing
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/1ef064c1e12449ab94b18a2e93145e92
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Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

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