title: [Genetic alterations and DNA-based diagnosis in breast cancer].
abstract: Human carcinomas are generally considered to develop through the accumulation of various genetic abnormalities. The major types of genetic alterations that are frequently observed in breast cancer are amplification of protooncogenes (MYC, ERBB2); mutation of TP53; and loss of heterozygosity on chromosomes 1, 3p, 8p, 11p, 13q, 17q, 17, and 22q. The latter may correspond to losses or inactivations of tumor suppressor genes. Recently, two major distinct breast susptibility genes were isolated, namely BRCA1 and BRCA2. We performed PCR-SSCP analysis to determine the role of the BRCA1 gene in Japanese breast cancer and investigated how multiple genetic alterations contribute to tumor development and/or progression in primary breast cancer, using a large number of tumor materials.
authors.affiliation: Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Matsumoto
authors.forename: M
authors.initials: M
authors.lastname: Emi
authors.forename: F
authors.initials: F
authors.lastname: Kasumi
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis*; D005192:Family Health; D005260:Female; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011519:Proto-Oncogenes; D014157:Transcription Factors / Q000235:genetics
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D014157:Transcription Factors