title: Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation.
abstract: To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no somatic mutations were detected in any of the tumors, constitutional mutations were identified in four cases: two frameshifts, one nonsense mutation and one intronic base substitution 32 bp downstream of exon 22; RT-PCR experiments revealed that the single-base substitution in the intron seemed to increase the transcript lacking exon 22. All four cases were judged to involve truncation of the gene product. The evidence reported here supports a rather limited role of BRCA1 in ovarian carcinogenesis in the Japanese population.
authors.affiliation: Laboratory of Molecular Medicine, University of Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Matsushima
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Emi
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: J
authors.initials: J
authors.lastname: Saito
authors.forename: K
authors.initials: K
authors.lastname: Suzumori
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D019313:BRCA1 Protein; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D019313:BRCA1 Protein; D003062:Codon; D017931:DNA Primers; D009363:Neoplasm Proteins; D014157:Transcription Factors