Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing
Unger M, Nathanson K, Calzone K, Antin-Ozerkis D, Shih H, Martin A, Lenoir G, Mazoyer S, Weber B. Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing. American Journal Of Human Genetics 2000, 67: 841-850. PMID: 10978226, PMCID: PMC1287889, DOI: 10.1086/303076.Peer-Reviewed Original ResearchBlotting, SouthernBRCA2 ProteinBreast NeoplasmsCohort StudiesDNA Mutational AnalysisEthnicityEuropeExonsFalse Negative ReactionsFemaleGene DosageGene RearrangementGenes, BRCA1Genes, DuplicateGenetic TestingHumansMutationNeoplasm ProteinsNucleic Acid ConformationOvarian NeoplasmsPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalRecombination, GeneticTranscription FactorsUnited States