1.
Clin Exp Dermatol
; 47(12): 2284-2285, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35904890
RESUMO
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.