Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online

Hum Mutat. 1998;12(3):212.

Abstract

Germ-line mutations in the p16/CDKN2 gene are known to predispose to melanoma. This gene belongs to a family of cyclin-dependent kinase inhibitors and blocks G1-S progression. The occurrence of p16/CDKN2 germline mutations in 12 Icelandic melanoma kindreds (kindreds with two or more cases of melanoma or melanoma, pancreas and/or glioma cases) was examined. No germ-line mutation was found, however five mutations not previously discribed in solid tumours were identified, Pro48Leu, Ala57Val, Gly89Asp, Leu117Met, Tyr129Stop.

MeSH terms

  • Carcinoma / genetics*
  • Genes, p16 / genetics*
  • Germ-Line Mutation / genetics*
  • Glioma / genetics*
  • Humans
  • Melanoma / genetics*
  • Pancreatic Neoplasms / genetics*