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

Samantha L WongDaniela MartiniucMaija Kiuru
Published in: Clinical and experimental dermatology (2022)
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.
Keyphrases
  • cell cycle
  • copy number
  • cell proliferation
  • skin cancer
  • genome wide
  • transcription factor
  • gene expression
  • dna methylation
  • case report
  • cerebrospinal fluid
  • basal cell carcinoma