Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group

Am J Hum Genet. 1996 Mar;58(3):451-6.


Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer. Since the isolation of BRCA1 last year, >65 distinct mutations scattered throughout the coding region have been detected, making analysis of the gene time consuming and technically challenging. We have developed a multiplex heteroduplex analysis that is designed to analyze one-quarter of the coding sequence in a single-step screening procedure and that will detect approximately 50% of all BRCA1 mutations so far reported in breast/ovarian cancer families. We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein
  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis*
  • DNA, Neoplasm / analysis
  • Exons
  • Female
  • Genetic Testing
  • Germ-Line Mutation*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Nucleic Acid Heteroduplexes / analysis
  • Ovarian Neoplasms / genetics*
  • Transcription Factors / genetics*


  • BRCA1 Protein
  • DNA, Neoplasm
  • Neoplasm Proteins
  • Nucleic Acid Heteroduplexes
  • Transcription Factors