Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer
Risch H, McLaughlin J, Cole D, Rosen B, Bradley L, Kwan E, Jack E, Vesprini D, Kuperstein G, Abrahamson J, Fan I, Wong B, Narod S. Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer. American Journal Of Human Genetics 2001, 68: 700-710. PMID: 11179017, PMCID: PMC1274482, DOI: 10.1086/318787.Peer-Reviewed Original ResearchConceptsOvarian cancer cluster regionFirst-degree relativesOvarian cancerBRCA2 mutationsProtein truncation testBRCA1 mutationsInvasive cancerBreast cancerAffected first-degree relativeRelatives of noncarriersRisk of ovarianPopulation-based seriesAge 80 yearsBreast cancer riskHereditary ovarian cancerBreast cancer penetranceEarly-onset diseaseLate-onset cancerLeukemia/lymphomaRelatives of casesMutation locationExon 11Borderline histologyIncident casesColorectal cancer