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
2015
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Journal Of Medical Genetics 2015, 52: 498. PMID: 25908759, DOI: 10.1136/jmedgenet-2015-103076.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingBase SequenceColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairEpigenesis, GeneticGenetic TestingHumansMicrosatellite RepeatsMolecular Sequence DataMutationMutL Protein Homolog 1Nuclear ProteinsPrevalencePromoter Regions, GeneticSequence Analysis, DNAStatistics, NonparametricConceptsColorectal cancerMLH1 expressionConstitutional epimutationsMultiplex ligation-dependent probe amplificationLigation-dependent probe amplificationMethylation-specific multiplex ligation-dependent probe amplificationDiagnosis of CRCConstitutional MLH1 methylationSeries of patientsMismatch repair genesProbe amplificationBethesda guidelinesConsecutive seriesUnselected seriesLynch syndromeUnselected casesUnselected groupGeneral populationUnselected populationPatientsMLH1 methylationNegligible prevalenceGermline alterationsPrevalenceMLH1 epimutations
2013
Preventing ovarian cancer through genetic testing: a population‐based study
Finch A, Bacopulos S, Rosen B, Fan I, Bradley L, Risch H, McLaughlin JR, Lerner‐Ellis J, Narod SA. Preventing ovarian cancer through genetic testing: a population‐based study. Clinical Genetics 2013, 86: 496-499. PMID: 24199689, DOI: 10.1111/cge.12313.Peer-Reviewed Original ResearchConceptsOvarian cancerGenetic testingGenetic testing criteriaInvasive ovarian cancerPopulation-based studyOvarian cancer patientsBRCA2 gene mutationsGenetic test resultsDevelopment of cancerCancer patientsBRCA2 mutationsMutation carriersUnselected casesEligibility criteriaCancerPatientsGene mutationsProvince of OntarioWomenPotential utilityPopulation levelBRCA1Mutations
2011
The CpG island methylator phenotype in colorectal cancer: Progress and problems
Hughes LA, Bakker C, Smits KM, van den Brandt PA, Jonkers D, Ahuja N, Herman JG, Weijenberg MP, van Engeland M. The CpG island methylator phenotype in colorectal cancer: Progress and problems. Biochimica Et Biophysica Acta 2011, 1825: 77-85. PMID: 22056543, DOI: 10.1016/j.bbcan.2011.10.005.Peer-Reviewed Original ResearchConceptsCpG island methylator phenotypeColorectal cancerMethylator phenotypeMolecular pathological epidemiologySporadic colorectal cancerEnvironmental risk factorsPotential clinical importanceMultiple gene panelsOnly original research articlesRisk factorsUnselected seriesInclusion criteriaUnselected casesTrue prevalenceClinical importanceSystematic reviewDisease trendsOriginal research articlesGene panelPrevalenceDistinct subgroupsCancerPrimary causePhenotypeUniversal definitionThe Role of KRAS rs61764370 in Invasive Epithelial Ovarian Cancer: Implications for Clinical Testing
Pharoah PD, Palmieri RT, Ramus SJ, Gayther SA, Andrulis IL, Anton-Culver H, Antonenkova N, Antoniou AC, Goldgar D, Investigators F, Beattie MS, Beckmann MW, Birrer MJ, Bogdanova N, Bolton KL, Brewster W, Brooks-Wilson A, Brown R, Butzow R, Caldes T, Caligo MA, Campbell I, Chang-Claude J, Chen YA, Cook LS, Couch FJ, Cramer DW, Cunningham JM, Despierre E, Doherty JA, Dörk T, Dürst M, Eccles DM, Ekici AB, Easton D, Investigators F, Fasching PA, de Fazio A, Fenstermacher DA, Flanagan JM, Fridley BL, Friedman E, Gao B, Sinilnikova O, Collaborators F, Gentry-Maharaj A, Godwin AK, Goode EL, Goodman MT, Gross J, Hansen TV, Harnett P, Rookus M, Investigators F, Heikkinen T, Hein R, Høgdall C, Høgdall E, Iversen ES, Jakubowska A, Johnatty SE, Karlan BY, Kauff ND, Kaye SB, Chenevix-Trench G, Investigators and the Consortium of Investigators of Modifiers of BRCA1/2 F, Kelemen LE, Kiemeney LA, Kjaer SK, Lambrechts D, LaPolla JP, Lázaro C, Le ND, Leminen A, Leunen K, Levine DA, Lu Y, Lundvall L, Macgregor S, Marees T, Massuger LF, McLaughlin JR, Menon U, Montagna M, Moysich KB, Narod SA, Nathanson KL, Nedergaard L, Ness RB, Nevanlinna H, Nickels S, Osorio A, Paul J, Pearce CL, Phelan CM, Pike MC, Radice P, Rossing MA, Schildkraut JM, Sellers TA, Singer CF, Song H, Stram DO, Sutphen R, Lindblom A, Investigators F, Terry KL, Tsai YY, van Altena AM, Vergote I, Vierkant RA, Vitonis AF, Walsh C, Wang-Gohrke S, Wappenschmidt B, Wu AH, Ziogas A, Berchuck A, Risch HA, Consortium F. The Role of KRAS rs61764370 in Invasive Epithelial Ovarian Cancer: Implications for Clinical Testing. Clinical Cancer Research 2011, 17: 3742-3750. PMID: 21385923, PMCID: PMC3107901, DOI: 10.1158/1078-0432.ccr-10-3405.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsCarcinoma, Ovarian EpithelialDisease-Free SurvivalEarly Detection of CancerFemaleGenes, BRCA1Genetic Predisposition to DiseaseGenotypeHumansMicroRNAsNeoplasm InvasivenessNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProto-Oncogene ProteinsProto-Oncogene Proteins p21(ras)ras ProteinsRiskConceptsOvarian cancerSingle nucleotide polymorphismsOvarian cancer risk evaluationProgression-free survival dataInvasive epithelial ovarian cancerEpithelial ovarian cancerOvarian Cancer Association ConsortiumCause mortality dataModifiers of BRCA1/2Familial ovarian cancerCancer risk evaluationClinical risk predictionConsortium of InvestigatorsOvarian cancer susceptibilityEvidence of associationInvasive EOCSerous EOCFamily historyUnselected casesSurvival timeRisk associationClinical testingKRAS oncogeneClinical testsSerous cases
1994
Hereditary and familial ovarian cancer in southern ontario
Narod S, Madlensky L, Tonin P, Bradley L, Rosen B, Cole D, Risch H. Hereditary and familial ovarian cancer in southern ontario. Cancer 1994, 74: 2341-2346. PMID: 7922985, DOI: 10.1002/1097-0142(19941015)74:8<2341::aid-cncr2820740819>3.0.co;2-z.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerBreast-ovarian cancer syndromeFirst-degree female relativesHereditary breast-ovarian cancerHereditary ovarian cancerPositive family historyCases of cancerPoint nine percentFamilial ovarian cancerBreast-ovarian cancerCommon hereditary formOvarian cancer familiesIncident casesCancer casesFamily historyUnselected casesCancer susceptibility genesHigh riskCancer syndromesHereditary formsCancerTelephone interviewsCancer familiesSimple questionnaire
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