CDKN2A exon 1B deletion predisposing to melanoma and neural system tumour syndrome.
Clin Exp Dermatol
; 47(12): 2284-2285, 2022 Dec.
Article
em En
| MEDLINE
| ID: mdl-35904890
ABSTRACT
CDKN2A at chromosome positon 9p21 is a tumour suppressor gene encoding the cell cycle regulators p16 and p14ARF. While melanoma is associated with variants affecting both transcripts, families with mutations involving the p14ARF-specific exon 1B may be predisposed to central nervous system tumours. We describe a family with a deletion of exon 1B in CDKN2A, who had multiple cutaneous melanomas, neural tumours and various malignancies.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteína Supressora de Tumor p14ARF
/
Melanoma
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article