2024
Detection of hepatocellular carcinoma methylation markers in salivary DNA
Mezzacappa C, Wang Z, Lu L, Risch H, Taddei T, Yu H. Detection of hepatocellular carcinoma methylation markers in salivary DNA. Bioscience Reports 2024, 44: bsr20232063. PMID: 38457142, PMCID: PMC10958141, DOI: 10.1042/bsr20232063.Peer-Reviewed Original ResearchHepatocellular carcinoma screeningCase patientsHepatocellular carcinomaControl subjectsDiagnosis of hepatocellular carcinomaAssociated with hepatocellular carcinomaScreening testSalivary DNASaliva-based testCpG sitesStudy of risk factorsSalivary DNA methylationDNA methylationViral hepatitisCirculating DNAAlterations to DNA methylationRisk factorsMethylation markersPatientsRegulation of cell cycle progressionBlood samplesCell cycle progressionAffected individualsAlternative to blood samplingMultiple comparisons
2019
No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study
Dong J, Gharahkhani P, Chow WH, Gammon MD, Liu G, Caldas C, Wu AH, Ye W, Onstad L, Anderson LA, Bernstein L, Pharoah PD, Risch HA, Corley DA, Fitzgerald RC, Consortium S, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Vaughan TL, MacGregor S, Love S, Palles C, Tomlinson I, Gockel I, May A, Gerges C, Anders M, Böhmer AC, Becker J, Kreuser N, Thieme R, Noder T, Venerito M, Veits L, Schmidt T, Schmidt C, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, Jankowski J, Schumacher J, Neale RE, Whiteman DC, Thrift AP. No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study. Clinical Gastroenterology And Hepatology 2019, 17: 2227-2235.e1. PMID: 30716477, PMCID: PMC6675666, DOI: 10.1016/j.cgh.2019.01.041.Peer-Reviewed Original ResearchConceptsRisk of BEMendelian randomization studyBarrett's esophagusEsophageal adenocarcinomaInverse variance weightingRandomization studyRisk of EACHydroxy vitamin DVitamin D statusVariance weightingEsophageal Adenocarcinoma ConsortiumD statusEAC riskVitamin DOdds ratioBE riskEsophagusAbstractTextL increaseSingle nucleotide polymorphismsConflicting resultsAdenocarcinomaPatientsSNP associationsRisk
2018
Disparities by race, age, and sex in the improvement of survival for lymphoma: Findings from a population-based study
Mukhtar F, Boffetta P, Dabo B, Park JY, Tran CTD, Tran TV, Tran HT, Whitney M, Risch HA, Le LC, Zheng W, Shu XO, Luu HN. Disparities by race, age, and sex in the improvement of survival for lymphoma: Findings from a population-based study. PLOS ONE 2018, 13: e0199745. PMID: 29995909, PMCID: PMC6040734, DOI: 10.1371/journal.pone.0199745.Peer-Reviewed Original ResearchConceptsLymphoma patientsHodgkin's lymphomaAge groupsHazard ratioDisease-specific mortalityFive-year survivalHodgkin's lymphoma patientsImprovement of survivalPopulation-based studyProportional hazards regressionConfidence intervalsCause-specific mortalityIncident lymphoma casesSEER cancer registryYears of ageOlder age groupsPatients 20Surveillance EpidemiologyCancer RegistrySurvival improvementHazards regressionLymphoma casesNHL survivalPatientsLymphoma
2017
Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants
Dong J, Buas MF, Gharahkhani P, Kendall BJ, Onstad L, Zhao S, Anderson LA, Wu AH, Ye W, Bird NC, Bernstein L, Chow WH, Gammon MD, Liu G, Caldas C, Pharoah PD, Risch HA, Iyer PG, Reid BJ, Hardie LJ, Lagergren J, Shaheen NJ, Corley DA, Fitzgerald RC, consortium S, Whiteman DC, Vaughan TL, Thrift AP. Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants. Gastroenterology 2017, 154: 1273-1281.e3. PMID: 29247777, PMCID: PMC5880715, DOI: 10.1053/j.gastro.2017.12.003.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaArea Under CurveAustraliaBarrett EsophagusCase-Control StudiesDatabases, FactualDecision Support TechniquesEsophageal NeoplasmsEuropeFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLife StyleLogistic ModelsMaleMiddle AgedModels, GeneticMolecular EpidemiologyMultifactorial InheritanceNorth AmericaOdds RatioPhenotypePolymorphism, Single NucleotidePredictive Value of TestsRisk AssessmentRisk FactorsROC CurveConceptsGastroesophageal reflux diseaseBarrett's esophagusEsophageal adenocarcinomaLifestyle factorsPolygenic risk scoresGERD symptomsNon-genetic factorsDemographic/lifestyle factorsNet reclassification improvementCharacteristic curve analysisAUC valuesRisk prediction modelEsophageal cancer studyInternational Barrett'sReflux diseaseHighest quartileNet reclassificationEpidemiologic factorsReclassification improvementLowest quartileHigh riskRisk scorePatientsEsophagusAbstractTextCorrelation 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
2016
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Kotsopoulos J, Sopik V, Rosen B, Fan I, McLaughlin JR, Risch H, Sun P, Narod SA, Akbari MR. Frequency of germline PALB2 mutations among women with epithelial ovarian cancer. Familial Cancer 2016, 16: 29-34. PMID: 27631815, DOI: 10.1007/s10689-016-9919-z.Peer-Reviewed Original ResearchConceptsGermline PALB2 mutationsPALB2 mutationsOvarian cancerEpithelial ovarian cancer patientsYear of diagnosisEpithelial ovarian cancerOvarian cancer patientsOvarian cancer riskMean ageCancer patientsControl subjectsNational HeartMedical recordsClinical recommendationsSurvival statusCancer riskClinical informationUnselected populationClinical relevanceBRCA2 genesGermline mutationsCancerFurther studiesPatientsPrevalenceAssociation of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study
Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiology Biomarkers & Prevention 2016, 25: 1185-1191. PMID: 27197284, PMCID: PMC5321211, DOI: 10.1158/1055-9965.epi-15-1217.Peer-Reviewed Original ResearchConceptsHigh-risk populationPancreatic cancerEarly onset pancreatic cancerPancreatic cancer familiesHigh-risk patientsMagnitude of associationHigh-penetrance genesGenetic variantsPancreatic cancer susceptibilityUnselected patientsFamily historyProstate cancerColon cancerCommon genetic variantsCancerCancer familiesLogistic regressionCancer susceptibilityCancer susceptibility lociPatientsCancer lociOvarianCommon variantsBreastRiskRisk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma
McWilliams RR, Maisonneuve P, Bamlet WR, Petersen GM, Li D, Risch HA, Yu H, Fontham ET, Luckett B, Bosetti C, Negri E, La Vecchia C, Talamini R, de Mesquita H, Bracci P, Gallinger S, Neale RE, Lowenfels AB. Risk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma. Pancreas 2016, 45: 311-316. PMID: 26646264, PMCID: PMC4710562, DOI: 10.1097/mpa.0000000000000392.Peer-Reviewed Original ResearchConceptsEarly onset pancreatic cancerPancreatic cancerAge-dependent effectsRisk factorsFamily historySex-matched control subjectsDiagnosis of PCCase-control studyLogistic regression analysisPC patientsDiabetes mellitusAlcohol intakeControl subjectsOdds ratioPancreatic adenocarcinomaEarly onsetPatientsOlder adultsStrong associationObesitySmokingRegression analysisRiskAssociationComprehensive assessment
2015
LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer
Shen Y, Wang Z, Loo LW, Ni Y, Jia W, Fei P, Risch HA, Katsaros D, Yu H. LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer. Breast Cancer Research And Treatment 2015, 154: 473-482. PMID: 26564482, PMCID: PMC4854534, DOI: 10.1007/s10549-015-3632-8.Peer-Reviewed Original ResearchConceptsDisease-free survivalLINC00472 expressionGrade 2 tumorsBreast cancerMolecular subtypesBreast tumorsFavorable molecular subtypesGrade 2 breast cancerBreast cancer managementLow-grade tumorsPromoter methylationBreast cancer progressionMultiple clinical datasetsPatient survivalTumor gradeLong non-coding RNAsEstrogen receptorCancer managementDysregulation of lncRNAsLINC00472Clinical implicationsPathogenic processesTumorsCancerPatientsPolymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma
Ek WE, Lagergren K, Cook M, Wu AH, Abnet CC, Levine D, Chow W, Bernstein L, Risch HA, Shaheen NJ, Bird NC, Corley DA, Hardie LJ, Fitzgerald RC, Gammon MD, Romero Y, Liu G, Ye W, Vaughan TL, MacGregor S, Whiteman DC, Westberg L, Lagergren J. Polymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma. International Journal Of Cancer 2015, 138: 1146-1152. PMID: 26414697, PMCID: PMC4715576, DOI: 10.1002/ijc.29863.Peer-Reviewed Original ResearchConceptsRisk of BEBarrett's esophagusEsophageal adenocarcinomaSingle nucleotide polymorphismsAndrogen pathwayRisk of EACStrong male predominanceBody mass indexMale predominanceTobacco smokingTobacco smokersBE patientsHip ratioEAC patientsSex hormonesReflux statusLarger sample sizeEsophagusInfluence riskGenetic epidemiological analysisPatientsControl participantsAdenocarcinomaRiskGenetic variantsNo clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Ovarian Cancer Association Consortium B, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Group A, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Register B, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dos Santos Silva I, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, Collaborators G, Network G, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Harter P, Hartikainen JM, Healey S, HEBON, Hein A, Heitz F, Henderson BE, Herzog J, Hildebrandt M, Høgdall CK, Høgdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, Investigators K, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, L. P, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JWM, Massuger LFAG, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MWR, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L, SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AMW, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PDP, Rookus MA, Hooning MJ, Goode EL. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology 2015, 141: 386-401. PMID: 25940428, PMCID: PMC4630206, DOI: 10.1016/j.ygyno.2015.04.034.Peer-Reviewed Original ResearchConceptsBreast cancer riskBreast cancerClinical outcomesOvarian cancerCancer riskClinical utilityBreast Cancer Association ConsortiumOvarian Cancer Association ConsortiumClinical genetic testingOverall survivalMutation carriersSurvival timeSuggested associationsCancerGenetic testingParticular subgroupRs61764370RiskAssociationOutcomesPrior studiesPatientsWomenSurvival in women with ovarian cancer with and without microsatellite instability.
Segev Y, Zhang S, Akbari MR, Sun P, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA, Pal T. Survival in women with ovarian cancer with and without microsatellite instability. European Journal Of Gynaecological Oncology 2015, 36: 681-4. PMID: 26775351.Peer-Reviewed Original ResearchConceptsPresence of MSIEpithelial ovarian cancerOvarian cancerMicrosatellite instabilityPrognostic factorsMSI statusNational Cancer Institute criteriaSpecific prognostic factorsPopulation-based studyOvarian cancer patientsHazard ratioPathologic featuresCancer patientsSubgroup analysisDefective mismatch repairSurvival differencesMulti-variate analysisCancerTumor samplesMSI markersSignificant differencesPatientsSurvivalWomenMismatch repair
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 levelBRCA1MutationsPPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer
Akbari MR, Lepage P, Rosen B, McLaughlin J, Risch H, Minden M, Narod SA. PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer. Journal Of The National Cancer Institute 2013, 106: djt323. PMID: 24262437, DOI: 10.1093/jnci/djt323.Peer-Reviewed Original ResearchMeSH KeywordsAgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCanadaCase-Control StudiesFemaleGenetic Predisposition to DiseaseHeterozygoteHumansIncidenceLeukocytesMiddle AgedMutationOdds RatioOvarian NeoplasmsPhosphoprotein PhosphatasesProportional Hazards ModelsProtein Phosphatase 2CRisk AssessmentRisk FactorsConceptsCase patientsWhite blood cellsOvarian cancerControl subjectsOvarian cancer case patientsFemale first-degree relativesBlood cellsCancer case patientsFirst-degree relativesLifetime riskBreast cancerFamily historyMutation carriersPatientsCancerPast historyTruncating mutationsBreastRiskMutationsSubjectsCellsNoncarriersMortalityWomen
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 effectsWomenRiskBRCA1PenetranceMutationsRelativesCohortGenetic Effects and Modifiers of Radiotherapy and Chemotherapy on Survival in Pancreatic Cancer
Zeng H, Yu H, Lu L, Jain D, Kidd MS, Saif MW, Chanock SJ, Hartge P, Risch H. Genetic Effects and Modifiers of Radiotherapy and Chemotherapy on Survival in Pancreatic Cancer. Pancreas 2011, 40: 657-663. PMID: 21487324, PMCID: PMC3116071, DOI: 10.1097/mpa.0b013e31821268d1.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overATP Binding Cassette Transporter, Subfamily G, Member 2ATP-Binding Cassette TransportersCase-Control StudiesConnecticutDihydrouracil Dehydrogenase (NADP)FemaleGenetic MarkersGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedNeoplasm ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotidePrognosisProportional Hazards ModelsSerpinsSurvival AnalysisTreatment OutcomeConceptsPancreatic cancerOverall survivalCancer survivalProportional hazards regression modelsSurvival of patientsPopulation-based studyPancreatic cancer survivalHazards regression modelsGerm-line genetic variationEvidence of associationClinical outcomesCancer patientsTreatment outcomesTreatment responseSignificant associationPatientsCancerPrevious genome-wide association study dataRadiotherapyPutative markerGenetic polymorphismsSurvivalDPYD geneChemotherapyEvidence of interactionFrequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer
Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecologic Oncology 2011, 121: 353-357. PMID: 21324516, DOI: 10.1016/j.ygyno.2011.01.020.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerOvarian cancerFirst-degree relativesMultiplex ligation-dependent probe amplificationUnselected patientsBRCA2 mutationsNon-mucinous ovarian cancerGermline mutationsCombined mutation frequencyPopulation-based seriesOvarian cancer patientsCommon adult cancersSerous ovarian cancerPrevalence of mutationsFrequency of BRCA1Mucinous carcinomaCancer patientsAdult cancersLigation-dependent probe amplificationCancerGenetic testingPatientsWomenBreastBRCA1
2010
A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk
Ratner E, Lu L, Boeke M, Barnett R, Nallur S, Chin LJ, Pelletier C, Blitzblau R, Tassi R, Paranjape T, Hui P, Godwin AK, Yu H, Risch H, Rutherford T, Schwartz P, Santin A, Matloff E, Zelterman D, Slack FJ, Weidhaas JB. A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk. Cancer Research 2010, 70: 6509-6515. PMID: 20647319, PMCID: PMC2923587, DOI: 10.1158/0008-5472.can-10-0689.Peer-Reviewed Original ResearchConceptsOvarian cancerKRAS-variantOC patientsCancer riskRisk of OCIndependent case-control analysesCase-control studyOvarian cancer syndromeCase-control analysisFamily membersAdvanced diseaseWomen's cancersRisk factorsBRCA2 mutationsHBOC patientsOC casesIndependent cohortHBOC familiesHereditary breastSolid tumorsCancer syndromesKRAS oncogeneVariant allelesPatientsCancer
2008
Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study
Metcalfe KA, Fan I, McLaughlin J, Risch HA, Rosen B, Murphy J, Bradley L, Armel S, Sun P, Narod SA. Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study. Gynecologic Oncology 2008, 112: 68-72. PMID: 19019415, PMCID: PMC3074978, DOI: 10.1016/j.ygyno.2008.10.007.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerClinical genetic testingOvarian cancerGenetic testingGenetic test resultsBlood samplesPositive genetic test resultOntario Cancer RegistryPopulation-based studyEpithelial ovarian cancerProportion of womenCancer RegistryRisk factorsBRCA2 mutationsClinical testingCancerWomenBRCA2BRCA1Small proportionPrevious testingMutationsPatientsTestingRegistry
2007
Excess diagnosis of non-Hodgkin's lymphoma during spring in the USA
Koutros S, Holford TR, Hahn T, Lantos PM, McCarthy PL, Risch HA, Swede H. Excess diagnosis of non-Hodgkin's lymphoma during spring in the USA. Leukemia & Lymphoma 2007, 48: 357-366. PMID: 17325897, DOI: 10.1080/10428190601076799.Peer-Reviewed Original ResearchConceptsHodgkin's lymphomaEnd Results (SEER) databaseMultivariate Poisson regressionExcess diagnosisNHL patientsDiagnosis yearHodgkin's diseaseResults databaseHematologic malignanciesIncidence rateOrigin subtypesChi-square analysisPoisson regressionDiagnostic biasLymphomaPatientsDiseaseDiagnosisFuture studiesYearsMalignancyRegressionLeukemiaEpidemiologySubtypes