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
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer
Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. British Journal Of Cancer 2012, 107: 1783-1790. PMID: 23047549, PMCID: PMC3493867, DOI: 10.1038/bjc.2012.452.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCarcinoma, Ovarian EpithelialColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA-Binding ProteinsFemaleHumansMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasms, Glandular and EpithelialNuclear ProteinsOvarian NeoplasmsConceptsHereditary non-polyposis colorectal cancerPopulation-based studyEpithelial ovarian cancerOvarian cancerNon-polyposis colorectal cancerNon-serous histologyPathogenic mutation carriersMismatch repair gene mutationsGene mutationsOvarian cancer patientsHNPCC genesPopulation-based sampleRepair gene mutationsMismatch repair genesFamily history informationPathogenic missense variantsColorectal cancerMean ageCancer patientsMSH6 mutationsTreatment decisionsMutation carriersFrequency of mutationsPathogenic variantsCancer
2008
Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1
Harley I, Rosen B, Risch HA, Siminovitch K, Beiner ME, McLaughlin J, Sun P, Narod SA. Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1. Gynecologic Oncology 2008, 109: 384-387. PMID: 18405947, PMCID: PMC3060029, DOI: 10.1016/j.ygyno.2007.11.046.Peer-Reviewed Original ResearchConceptsHereditary non-polyposis colon cancer syndromeInvasive ovarian cancerOvarian cancerMLH1 genePolymorphic variantsOvarian cancer riskColon cancer syndromesMismatch repair genes MLH1Endometrial cancerClear cellsCancer riskCardinal featuresCancer syndromesCancerGenes MLH1Proportion of familiesSignificant riskSyndromeColonCommon variantsRiskEthnic groupsPredisposesHistologyVariants