2021
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM, Collée J, Couch F, Daly M, Dennis J, Dhawan M, Domchek S, Eeles R, Engel C, Evans D, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz P, Garber J, Gayther S, Gerdes A, Godwin A, Goldgar D, Hahnen E, Hake C, Hamann U, Hogervorst F, Hooning M, Hopper J, Hulick P, Imyanitov E, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen U, Jiao Y, John E, Joseph V, Karlan B, Kets C, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud J, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes D, Montagna M, Mouret-Fourme E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Olah E, Olopade O, Park S, Parsons M, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch H, Schmutzler R, Sharma P, Simard J, Singer C, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tung N, van Rensburg E, Vega A, Wappenschmidt B, Devilee P, van Asperen C, Bernstein J, Offit K, Easton D, Rookus M, Chenevix-Trench G, Antoniou A, Robson M, Schmidt M. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics In Medicine 2021, 23: 1726-1737. PMID: 34113011, PMCID: PMC8460445, DOI: 10.1038/s41436-021-01198-7.Peer-Reviewed Original ResearchConceptsCBC riskHazard ratioFirst BCC-indexPolygenic risk scoresRisk scoreConfidence intervalsContralateral breast cancer riskBreast cancer polygenic risk scoreBRCA2 pathogenic variantsAge 40 yearsBreast cancer riskMultifactorial risk modelEuropean ancestryModifiers of BRCA1/2Breast cancer risk predictionCancer risk predictionConsortium of InvestigatorsRetrospective seriesInvasive BCPathological characteristicsFamily historyEstrogen receptorHeterozygous BRCA1Cancer risk
2017
Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies
Peres LC, Risch H, Terry KL, Webb PM, Goodman MT, Wu AH, Alberg AJ, Bandera EV, Barnholtz-Sloan J, Bondy ML, Cote ML, Funkhouser E, Moorman PG, Peters ES, Schwartz AG, Terry PD, Manichaikul A, Abbott SE, Camacho F, Jordan SJ, Nagle CM, Group A, Rossing M, Doherty J, Modugno F, Moysich K, Ness R, Berchuck A, Cook L, Le N, Brooks-Wilson A, Sieh W, Whittemore A, McGuire V, Rothstein J, Anton-Culver H, Ziogas A, Pearce C, Tseng C, Pike M, Schildkraut J, Consortium T. Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies. International Journal Of Epidemiology 2017, 47: 460-472. PMID: 29211900, PMCID: PMC5913601, DOI: 10.1093/ije/dyx252.Peer-Reviewed Original ResearchConceptsAfrican American Cancer Epidemiology StudyRace/ethnicityCase-control studyOvarian Cancer Association ConsortiumOdds ratioLargest odds ratioRisk factorsFamily historyEOC riskFirst-degree family historyModifiable risk factorsMultivariable logistic regressionOvarian cancer incidenceRisk factor associationsCancer Epidemiology StudyEthnic differencesAsian/Pacific IslandersOvarian cancer etiologyBlack womenInvasive EOCPooled analysisEpidemiological characteristicsCancer incidenceOvarian cancerHigh prevalence
2016
Association between family cancer history and risk of pancreatic cancer
Schulte A, Pandeya N, Fawcett J, Fritschi L, Klein K, Risch HA, Webb PM, Whiteman DC, Neale RE. Association between family cancer history and risk of pancreatic cancer. Cancer Epidemiology 2016, 45: 145-150. PMID: 27810486, DOI: 10.1016/j.canep.2016.10.005.Peer-Reviewed Original ResearchConceptsPancreatic cancerFamily historyOdds ratioAustralian population-based case-control studyPopulation-based case-control studyLaird random-effects modelHistory of cancerAdjusted odds ratioPancreatic cancer patientsConfidence intervalsFamily cancer historyCase-control studyPancreatic cancer riskFirst-degree relativesRandom-effects modelMelanoma family historyPancreatic cancer studiesCancer historyCancer patientsRisk factorsPancreatic adenocarcinomaProstate cancerCancer riskMEDLINE databaseCancerAssociation 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
2013
PPM1D 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 mutationsBreastRiskMutationsSubjectsCellsNoncarriersMortalityWomenAn Absolute Risk Model to Identify Individuals at Elevated Risk for Pancreatic Cancer in the General Population
Klein AP, Lindström S, Mendelsohn JB, Steplowski E, Arslan AA, Bueno-de-Mesquita HB, Fuchs CS, Gallinger S, Gross M, Helzlsouer K, Holly EA, Jacobs EJ, LaCroix A, Li D, Mandelson MT, Olson SH, Petersen GM, Risch HA, Stolzenberg-Solomon RZ, Zheng W, Amundadottir L, Albanes D, Allen NE, Bamlet WR, Boutron-Ruault MC, Buring JE, Bracci PM, Canzian F, Clipp S, Cotterchio M, Duell EJ, Elena J, Gaziano JM, Giovannucci EL, Goggins M, Hallmans G, Hassan M, Hutchinson A, Hunter DJ, Kooperberg C, Kurtz RC, Liu S, Overvad K, Palli D, Patel AV, Rabe KG, Shu XO, Slimani N, Tobias GS, Trichopoulos D, Van Den Eeden SK, Vineis P, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hoover RN, Hartge P, Kraft P. An Absolute Risk Model to Identify Individuals at Elevated Risk for Pancreatic Cancer in the General Population. PLOS ONE 2013, 8: e72311. PMID: 24058443, PMCID: PMC3772857, DOI: 10.1371/journal.pone.0072311.Peer-Reviewed Original ResearchConceptsPancreatic cancerRisk factorsAbsolute risk modelsAbsolute riskElevated riskGeneral populationLifetime absolute riskGenetic factorsPopulation incidence ratesGenetic risk factorsNon-Hispanic whitesHeavy alcohol useImmediate clinical utilityRisk modelCurrent smokingIncidence rateRelative riskFamily historyModifiable behaviorsClinical utilityU.S. non-Hispanic whitesCancerAverage riskAlcohol useNon-genetic factors
2011
The 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
2002
Infertility, Fertility Drugs, and Ovarian Cancer: A Pooled Analysis of Case-Control Studies
Ness RB, Cramer DW, Goodman MT, Kjaer SK, Mallin K, Mosgaard BJ, Purdie DM, Risch HA, Vergona R, Wu AH. Infertility, Fertility Drugs, and Ovarian Cancer: A Pooled Analysis of Case-Control Studies. American Journal Of Epidemiology 2002, 155: 217-224. PMID: 11821246, DOI: 10.1093/aje/155.3.217.Peer-Reviewed Original ResearchConceptsFertility drug useCase-control studyOvarian cancerDrug useNulligravid womenFertility drugsBorderline serous tumorsOral contraception useMonths of useSubfertile womenHistologic subtypeSerous tumorsPooled analysisTubal ligationOdds ratioUnknown causeBiologic causesFamily historyCancer riskContraception useInfertilityCancerOverall riskConfidence intervalsWomen
2001
Family history of cancer and risk of esophageal and gastric cancers in the United States
Dhillon P, Farrow D, Vaughan T, Chow W, Risch H, Gammon M, Mayne S, Stanford J, Schoenberg J, Ahsan H, Dubrow R, West A, Rotterdam H, Blot W, Fraumeni J. Family history of cancer and risk of esophageal and gastric cancers in the United States. International Journal Of Cancer 2001, 93: 148-152. PMID: 11391635, DOI: 10.1002/ijc.1294.Peer-Reviewed Original ResearchConceptsNon-cardia gastric adenocarcinomaFamily historyGastric cancerEsophageal cancerGastric adenocarcinomaEsophageal adenocarcinomaEsophageal squamous cell cancerNon-cardia gastric cancerEsophageal squamous cell carcinomaSquamous cell cancerRisk of esophagealSquamous cell carcinomaCase-control studyGastric cardia adenocarcinomaHigh incidence areaGastric cardiaIncreased riskCell carcinomaDigestive cancersRisk factorsStomach cancerProstate cancerBreast cancerGastric tumorsCardia adenocarcinoma
2000
BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, Smotkin D, Ben-David Y, Rosenblatt J, Russo D, Schwartz P, Tung N, Warner E, Rosen B, Friedman J, Brunet J, Narod S. BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer. American Journal Of Human Genetics 2000, 66: 1259-1272. PMID: 10739756, PMCID: PMC1288193, DOI: 10.1086/302853.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBRCA2 ProteinBreast NeoplasmsDNA Mutational AnalysisFemaleFounder EffectGene FrequencyGenes, BRCA1Genetic Predisposition to DiseaseHumansIncidenceIsraelJewsMaleMiddle AgedMutationNeoplasm ProteinsNeoplasm StagingNorth AmericaOvarian NeoplasmsPedigreeTranscription FactorsConceptsFemale first-degree relativesAge 75 yearsOvarian cancerFirst-degree relativesBreast cancerAshkenazi Jewish womenHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeObserved excess riskFounder mutationFamilial cancer riskDetailed family historyBRCA2 mutation analysisCumulative incidenceExcess riskHealthy controlsRelative riskFamily historyMedical CenterCancer riskCancer syndromesAshkenazi Jewish populationControl populationProtein truncation testBRCA2 genes
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