title: Multiplex mutation screening of the BRCA1 gene in 1000 Japanese breast cancers.
abstract: To detect BRCA1 mutations in Japanese breast cancer patients, we screened 1,000 unselected primary cancers for mutations in exon 11, which accounts for 61% of the entire BRCA1 coding sequence. Using a method based on multiplex single-strand conformational polymorphism (SSCP) analysis of multiple restriction fragments generated by restriction-enzyme digestion of amplified DNA, we identified eight mutations. All eight were germline mutations; four of them were non-sense mutations or small deletions resulting in premature stop codons, and the other four were missense mutations. The Japanese carriers of these mutant BRCA1 alleles had developed breast cancers at ages ranging from 45 to 62, five of them bilaterally.
authors.affiliation: Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo.
authors.forename: M
authors.initials: M
authors.lastname: Emi
authors.forename: M
authors.initials: M
authors.lastname: Matsushima
authors.forename: T
authors.initials: T
authors.lastname: Katagiri
authors.forename: M
authors.initials: M
authors.lastname: Yoshimoto
authors.forename: F
authors.initials: F
authors.lastname: Kasumi
authors.forename: T
authors.initials: T
authors.lastname: Yokota
authors.forename: T
authors.initials: T
authors.lastname: Nakata
authors.forename: Y
authors.initials: Y
authors.lastname: Miki
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D000368:Aged; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017421:Sequence Analysis