Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
13 01 2021
13 01 2021
Historique:
received:
24
05
2020
accepted:
30
11
2020
entrez:
14
1
2021
pubmed:
15
1
2021
medline:
14
8
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33441926
doi: 10.1038/s41598-020-80867-0
pii: 10.1038/s41598-020-80867-0
pmc: PMC7806620
doi:
Substances chimiques
Patched-1 Receptor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1163Références
J Dermatol Sci. 2017 Jun;86(3):206-211
pubmed: 28342698
Orphanet J Rare Dis. 2008 Nov 25;3:32
pubmed: 19032739
Am J Med Genet A. 2011 Sep;155A(9):2091-7
pubmed: 21834049
Am J Med Genet A. 2012 Feb;158A(2):351-7
pubmed: 22246785
J Clin Oncol. 2014 Dec 20;32(36):4155-61
pubmed: 25403219
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Genet. 2016 Jan;48(1):4-6
pubmed: 26711108
Eur J Cancer. 2019 Sep;118:10-34
pubmed: 31288208
PLoS One. 2013 Oct 21;8(10):e77305
pubmed: 24204797
Mol Genet Genomic Med. 2018 Nov;6(6):1168-1180
pubmed: 30411536
Science. 1996 Jun 14;272(5268):1668-71
pubmed: 8658145
J Med Genet. 1993 Jun;30(6):460-4
pubmed: 8326488
Int J Mol Sci. 2020 Oct 13;21(20):
pubmed: 33066274
Ann Lab Med. 2018 May;38(3):242-248
pubmed: 29401559
Acta Med Okayama. 2014;68(3):163-70
pubmed: 24942795
Lancet. 1992 Mar 7;339(8793):581-2
pubmed: 1347096
J Dent Res. 2008 Jun;87(6):575-9
pubmed: 18502968
PLoS One. 2015 Nov 06;10(11):e0140480
pubmed: 26544948
Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Sep;120(3):408-15
pubmed: 26297396
Clin Genet. 1999 Jan;55(1):34-40
pubmed: 10066029
J Craniofac Surg. 2018 May;29(3):e252-e255
pubmed: 29381605
Br J Dermatol. 2016 Jan;174(1):68-76
pubmed: 26409035
JAMA Dermatol. 2017 Feb 1;153(2):189-192
pubmed: 27902821
Am J Med Genet A. 2006 Dec 1;140(23):2625-30
pubmed: 16906569
Genet Med. 2005 Nov-Dec;7(9):611-9
pubmed: 16301862
J Am Acad Dermatol. 2020 Aug;83(2):604-607
pubmed: 31374299
Lancet Oncol. 2018 Jun;19(6):785-798
pubmed: 29753700
Mol Vis. 2019 Nov 14;25:679-690
pubmed: 31814693
Int J Dermatol. 2016 Apr;55(4):367-75
pubmed: 26356331
N Engl J Med. 1960 May 5;262:908-12
pubmed: 13851319
Am J Hum Genet. 1997 Jan;60(1):21-6
pubmed: 8981943
Mol Genet Genomic Med. 2018 May;6(3):409-415
pubmed: 29575684
Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Sep;120(3):396-407
pubmed: 26297395
Am J Hum Genet. 1997 Jan;60(1):10-2
pubmed: 8981940
Int J Oral Maxillofac Surg. 2004 Jul;33(5):458-62
pubmed: 15183409
Am J Med Genet. 1997 Mar 31;69(3):299-308
pubmed: 9096761