Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred

J Med Genet. 2003 Aug;40(8):e102. doi: 10.1136/jmg.40.8.e102.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / genetics*
  • Cells, Cultured
  • Child
  • Female
  • Gene Frequency
  • Genes, p16*
  • Germ-Line Mutation
  • Humans
  • Male
  • Melanoma / genetics*
  • Middle Aged
  • Mutation*
  • Mutation, Missense
  • Neurofibroma / genetics*
  • Pedigree
  • RNA Splice Sites / genetics*
  • Tumor Suppressor Protein p14ARF / genetics*
  • Tumor Suppressor Protein p14ARF / physiology

Substances

  • BRCA1 Protein
  • BRCA2 Protein
  • RNA Splice Sites
  • Tumor Suppressor Protein p14ARF