title: Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group.
abstract: 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.
authors.affiliation: CRC Human Cancer Genetics Research Group, Addenbrooke's Hospital, Cambridge, United Kingdom.
authors.forename: S A
authors.initials: SA
authors.lastname: Gayther
authors.forename: P
authors.initials: P
authors.lastname: Harrington
authors.forename: P
authors.initials: P
authors.lastname: Russell
authors.forename: G
authors.initials: G
authors.lastname: Kharkevich
authors.forename: R F
authors.initials: RF
authors.lastname: Garkavtseva
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
mesh_terms: D019313:BRCA1 Protein; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005091:Exons; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D010051:Ovarian Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D009692:Nucleic Acid Heteroduplexes; D014157:Transcription Factors