2001
Germline Mutations in BRCA1 and BRCA2 in Breast-Ovarian Families From a Breast Cancer Risk Evaluation Clinic
Martin A, Blackwood MA, Antin-Ozerkis D, Shih HA, Calzone K, Colligon TA, Seal S, Collins N, Stratton MR, Weber BL, Nathanson KL. Germline Mutations in BRCA1 and BRCA2 in Breast-Ovarian Families From a Breast Cancer Risk Evaluation Clinic. Journal Of Clinical Oncology 2001, 19: 2247-2253. PMID: 11304778, DOI: 10.1200/jco.2001.19.8.2247.Peer-Reviewed Original ResearchConceptsOvarian cancerEvaluation clinicGermline mutationsStudy groupLow-penetrance susceptibility genesBreast Cancer Linkage ConsortiumOvarian cancer familiesBreast cancer diagnosisYounger average ageClinical parametersBreast cancerAverage ageMutation statusHereditary breastMultivariate analysisRegion of BRCA1CancerCancer familiesBreastClinicCancer diagnosisProportion of familiesBRCA2Strongest predictorDirect sequencing
2000
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