Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome

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.

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Investigation of Genetic Mutations in High-risk and Low-risk Basal Cell Carcinoma in a Non-Caucasian Population by Whole Exome Sequencing

Acta Dermato Venereologica ◽

10.2340/00015555-3820 ◽

2021 ◽

pp. 0

Author(s):

H Kim ◽

M Lee ◽

Y Lee ◽

D Yu

Keyword(s):

High Risk ◽

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Basal Cell ◽

Caucasian Population ◽

Low Risk ◽

Genetic Mutations ◽

Whole Exome

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

Cancer Biomarkers ◽

10.3233/cbm-170541 ◽

2017 ◽

Vol 21 (1) ◽

pp. 161-168 ◽

Cited By ~ 1

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

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Abstract 4289: Whole-exome sequencing study of nevoid basal cell carcinoma syndrome (NBCCS) families to identify disease-causing exonic mutations

10.1158/1538-7445.am2017-4289 ◽

2017 ◽

Author(s):

Matthew Gianferante ◽

Alisa Goldstein ◽

Mingyi Wang ◽

Bin Zhu ◽

Belynda Hicks ◽

...

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Basal Cell ◽

Whole Exome

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Molecular diagnosis of basal cell carcinoma and other basaloid cell neoplasms of the skin by the quantification of Gli1 transcript levels

Journal of Cutaneous Pathology ◽

10.1111/j.0303-6987.2005.00264.x ◽

2005 ◽

Vol 32 (2) ◽

pp. 131-136 ◽

Cited By ~ 24

Author(s):

Naohito Hatta ◽

Takashi Hirano ◽

Tetsunori Kimura ◽

Ken Hashimoto ◽

Darius R. Mehregan ◽

...

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Molecular Diagnosis ◽

Basal Cell ◽

Transcript Levels ◽

Basaloid Cell

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Ultrastructure of Mouse Basal Cell Carcinoma Exhibiting Sebaceous Differentiation

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s1431927600003214 ◽

1980 ◽

Vol 38 ◽

pp. 738-739

Author(s):

Victoria L. Wade ◽

Winslow G. Sheldon ◽

James W. Townsend ◽

William Allaben

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Topical Application ◽

Basal Cell ◽

Sebaceous Gland ◽

Rats And Mice ◽

Mixed Tumors

Sebaceous gland tumors and other tumors exhibiting sebaceous differentiation have been described in humans (1,2,3). Tumors of the sebaceous gland can be induced in rats and mice following topical application of carcinogens (4), but spontaneous mixed tumors of basal cell origin rarely occur in mice.

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