Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

Cancer. 2014 May 15;120(10):1594-5. doi: 10.1002/cncr.28605. Epub 2014 Feb 5.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Codon, Terminator*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Germ-Line Mutation*
  • Humans
  • Lysine
  • Male
  • Middle Aged
  • Neoplasms / genetics*
  • Polymorphism, Genetic

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • Codon, Terminator
  • Lysine