CDKN2A exon 1B deletion predisposing to melanoma and neural system tumour syndrome.

Autor: Wong SL; Department of Dermatology, University of California, Davis, Sacramento, CA, USA., Martiniuc D; Hereditary Cancer Program, Comprehensive Cancer Center, University of California, Davis, Sacramento, CA, USA., Kiuru M; Department of Dermatology, University of California, Davis, Sacramento, CA, USA.; Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA, USA.
Jazyk: angličtina
Zdroj: Clinical and experimental dermatology [Clin Exp Dermatol] 2022 Dec; Vol. 47 (12), pp. 2284-2285. Date of Electronic Publication: 2022 Oct 25.
DOI: 10.1111/ced.15354
Abstrakt: 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.
(© 2022 British Association of Dermatologists.)
Databáze: MEDLINE
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