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
2009
Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer
Bentov Y, Brown TJ, Akbari MR, Royer R, Risch H, Rosen B, McLaughlin J, Sun P, Zhang S, Narod SA, Casper RF. Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer. PLOS ONE 2009, 4: e5918. PMID: 19526059, PMCID: PMC2691597, DOI: 10.1371/journal.pone.0005918.Peer-Reviewed Original ResearchConceptsOvarian cancerSingle nucleotide polymorphismsCandidate genesFibrinolytic systemGenesFunctional variantsFunctional SNPsNucleotide polymorphismsPolymorphic variationBlood clot degradationOvarian cancer casesFunctional effectsSNPsHistologic subgroupsRetrograde menstruationCancer casesClot degradationGenotype distributionBlood clotsSignificant associationCancerFibrin productsGermlineInefficient removalRisk