title: BRCA1 mutations in primary breast and ovarian carcinomas.
abstract: Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.
authors.affiliation: Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709.
authors.forename: P A
authors.initials: PA
authors.lastname: Futreal
authors.forename: Q
authors.initials: Q
authors.lastname: Liu
authors.forename: D
authors.initials: D
authors.lastname: Shattuck-Eidens
authors.forename: C
authors.initials: C
authors.lastname: Cochran
authors.forename: K
authors.initials: K
authors.lastname: Harshman
authors.forename: S
authors.initials: S
authors.lastname: Tavtigian
authors.forename: L M
authors.initials: LM
authors.lastname: Bennett
authors.forename: A
authors.initials: A
authors.lastname: Haugen-Strano
authors.forename: J
authors.initials: J
authors.lastname: Swensen
authors.forename: Y
authors.initials: Y
authors.lastname: Miki
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D019313:BRCA1 Protein; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors