Journal
CLINICAL AND EXPERIMENTAL DERMATOLOGY
Volume 47, Issue 12, Pages 2284-2285Publisher
WILEY
DOI: 10.1111/ced.15354
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Funding
- National Institute of Arthritis and Musculoskeletal and Skin Diseases [K23AR074530]
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This article describes a family with a deletion of exon 1B in CDKN2A, who had multiple cutaneous melanomas, neural tumors, and various malignancies.
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.
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