title: Exon deletions and duplications in BRCA1 detected by semiquantitative PCR.
abstract: rearrangements have recently been identified in the BRCA1 gene. Inclusion of a method for identifying such rearrangements should now be a prerequisite for providing a comprehensive mutation detection strategy. We have developed a semiquantitative PCR-based fluorescent assay for the detection of previously identified deletions. This method avoids the need for long PCR or Southern blotting and is suitable for large-scale epidemiological studies. The assay was used to screen 44 high-risk families within the U.K. Yorkshire Health Region. No deletions were detected, but five cases (11%) with an apparent duplication of exon 13 in BRCA1 were identified. The presence of this mutation was confirmed by long PCR. Further developments include extending the assay to include all exons of BRCA1.
authors.affiliation: Yorkshire Regional DNA Laboratory, St. James's University Hospital, Leeds, UK.
authors.forename: M D
authors.initials: MD
authors.lastname: Robinson
authors.forename: C E
authors.initials: CE
authors.lastname: Chu
authors.forename: G
authors.initials: G
authors.lastname: Turner
authors.forename: D T
authors.initials: DT
authors.lastname: Bishop
authors.forename: G R
authors.initials: GR
authors.lastname: Taylor
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005069:Evaluation Studies as Topic; D005091:Exons / Q000235:genetics; D005260:Female; D005453:Fluorescence; D018703:Founder Effect; D018628:Gene Dosage; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity; D017384:Sequence Deletion / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D019313:BRCA1 Protein; D004247:DNA