2011
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes
Akbari MR, Zhang S, Fan I, Royer R, Li S, Risch H, McLaughlin J, Rosen B, Sun P, Narod SA. Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. Journal Of Medical Genetics 2011, 48: 783. PMID: 21965345, DOI: 10.1136/jmedgenet-2011-100305.Peer-Reviewed Original ResearchConceptsFirst-degree relativesFemale first-degree relativesRelatives of patientsOvarian cancerCumulative riskPathogenic mutationsUnclassified variantsRisk of cancerHistorical cohortBRCA2 mutationsClinical impactHigh riskBRCA2 genesCancerUnknown significancePatientsMissense variantsFunctional effectsWomenRiskBRCA1PenetranceMutationsRelativesCohort
2003
Re: On the Use of Familial Aggregation in Population-Based Case Probands for Calculating Penetrance
Risch HA, Narod SA. Re: On the Use of Familial Aggregation in Population-Based Case Probands for Calculating Penetrance. Journal Of The National Cancer Institute 2003, 95: 73-74. PMID: 12509405, DOI: 10.1093/jnci/95.1.73-a.Peer-Reviewed Original Research