2017
Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens
Akbari MR, Zhang S, Cragun D, Lee JH, Coppola D, McLaughlin J, Risch HA, Rosen B, Shaw P, Sellers TA, Schildkraut J, Narod SA, Pal T. Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. Familial Cancer 2017, 16: 351-355. PMID: 28176205, DOI: 10.1007/s10689-017-9973-1.Peer-Reviewed Original ResearchConceptsOvarian cancer specimensOvarian cancerCancer specimensMicrosatellite instabilityGermline mutationsMMR mutationsMSI testingGermline MMR gene mutationsMMR genesPathogenic MMR mutationsMalignant ovarian cancerMMR gene mutationsPositive predictive valueMismatch repair genesMSI-positive cancersLynch syndromeMore microsatellite markersUnselected casesPredictive valuePatientsCancerPotential patientsGermline DNAGene mutationsWomen
2012
Germline Copy Number Variation and Ovarian Cancer Survival
Fridley BL, Chalise P, Tsai YY, Sun Z, Vierkant RA, Larson MC, Cunningham JM, Iversen ES, Fenstermacher D, Barnholtz-Sloan J, Asmann Y, Risch HA, Schildkraut JM, Phelan CM, Sutphen R, Sellers TA, Goode EL. Germline Copy Number Variation and Ovarian Cancer Survival. Frontiers In Genetics 2012, 3: 142. PMID: 22891074, PMCID: PMC3413872, DOI: 10.3389/fgene.2012.00142.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsGenome-wide arrayCopy number variationsCopy number changesSingle-marker approachGermline copy number variationsQuality control exclusionsChromosomal regionsNumber variationsNumber variantsNucleotide polymorphismsMultiple testing correctionCNV burdenConsecutive markersComplex diseasesLarge CNVsNumber changesChromosomal gainsSmall CNVsMarker approachCNVsGermline DNACNV probesCNV classificationComplementary approaches
1999
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphism