CDKN2A novel mutation in a patient from a melanoma-prone family

P. Grammatico, F. Binni, L. Eibenschutz, C. De Bernardo, B. Grammatico, R. Rinaldi, P. De Simone, C. Catricalà

Research output: Contribution to journalArticlepeer-review

Abstract

CDKN2A is thought to be the main candidate gene for melanoma susceptibility. Deletion or mutations in the CDKN2A gene may produce an imbalance between functional p16 and cyclin D, causing abnormal cell growth. We here describe a novel mutation consisting of a 1 bp deletion at nucleotide position 201 (codon 67) (CACGGcGCG) resulting in a truncated protein (stop codon 145). The patient, a female subject from a melanoma-prone family, presented at the age of 47 years with a superficial spreading melanoma of the trunk. Her father had colon cancer at the age of 43 years and melanoma at 63 years, her uncle suffered from gastric cancer, and her grandfather had laryngeal cancer.

Original languageEnglish
Pages (from-to)447-449
Number of pages3
JournalMelanoma Research
Volume11
Issue number5
DOIs
Publication statusPublished - 2001

Keywords

  • CDKN2A
  • Deletion
  • Familial melanoma

ASJC Scopus subject areas

  • Cancer Research
  • Dermatology

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