2006
Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA. Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada. Journal Of The National Cancer Institute 2006, 98: 1694-1706. PMID: 17148771, DOI: 10.1093/jnci/djj465.Peer-Reviewed Original ResearchConceptsIncident ovarian cancerAge 80 yearsGeneral Ontario populationOvarian cancerBRCA2 mutationsTypes of cancerMutation carriageCumulative incidenceRelative riskBreast cancerHigh riskGeneral populationBRCA1 mutationsInvasive ovarian cancerCancer incidence ratesFirst-degree relativesBRCA2 mutation frequencyOntario populationUnselected patientsMale breastTestis cancerCancer outcomesPancreatic cancerIncidence rateCancer risk
2001
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