A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence

Hum Mutat. 2001 Feb;17(2):154. doi: 10.1002/1098-1004(200102)17:2<154::AID-HUMU12>3.0.CO;2-O.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • BRCA1 Protein / genetics*
  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • Family Health
  • Female
  • Gene Duplication
  • Humans
  • Introns / genetics
  • Middle Aged
  • Mutation
  • Sequence Deletion

Substances

  • BRCA1 Protein
  • DNA, Neoplasm