Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain

J Clin Oncol. 2008 Sep 1;26(25):4212-4; author reply 4214-5. doi: 10.1200/JCO.2008.18.2089.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Conserved Sequence
  • DNA Mutational Analysis
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics
  • Female
  • Gene Deletion
  • Genes, BRCA1*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid

Substances

  • DNA, Neoplasm