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
2017
Quantifying the Genetic Correlation between Multiple Cancer Types
Lindström S, GECCO and the GAME-ON Network: CORECT D, Finucane H, Bulik-Sullivan B, Schumacher F, Amos C, Hung R, Rand K, Gruber S, Conti D, Permuth J, Lin H, Goode E, Sellers T, Amundadottir L, Stolzenberg-Solomon R, Klein A, Petersen G, Risch H, Wolpin B, Hsu L, Huyghe J, Chang-Claude J, Chan A, Berndt S, Eeles R, Easton D, Haiman C, Hunter D, Neale B, Price A, Kraft P. Quantifying the Genetic Correlation between Multiple Cancer Types. Cancer Epidemiology Biomarkers & Prevention 2017, 26: 1427-1435. PMID: 28637796, PMCID: PMC5582139, DOI: 10.1158/1055-9965.epi-17-0211.Peer-Reviewed Original ResearchConceptsColorectal cancerLung cancerRisk factorsBreast cancerRare high-penetrance mutationsCancer typesBody mass indexSpecific genetic risk factorsGenetic risk factorsHigh-penetrance mutationsMass indexControl subjectsOvarian cancerObservational studyProstate cancerNoncancer diseasesGenome-wide association studiesCancerDistinct cancersPrevious observational studiesAssociation studiesColorectalLungSummary statistics dataModest genetic correlation
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 studiesPatientsPrevalenceThree new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21
Zhang M, Wang Z, Obazee O, Jia J, Childs EJ, Hoskins J, Figlioli G, Mocci E, Collins I, Chung CC, Hautman C, Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Duell EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Kamineni A, Kolonel LN, Kulke MH, Malats N, Olson SH, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC, Albanes D, Andreotti G, Brais L, Bueno-de-Mesquita HB, Basso D, Berndt SI, Boutron-Ruault MC, Bijlsma MF, Brenner H, Burdette L, Campa D, Caporaso NE, Capurso G, Cavestro GM, Cotterchio M, Costello E, Elena J, Boggi U, Gaziano JM, Gazouli M, Giovannucci EL, Goggins M, Gross M, Haiman CA, Hassan M, Helzlsouer KJ, Hu N, Hunter DJ, Iskierka-Jazdzewska E, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh V, Kupcinskas J, Kurtz RC, Landi MT, Landi S, Marchand L, Mambrini A, Mannisto S, Milne RL, Neale RE, Oberg AL, Panico S, Patel AV, Peeters PH, Peters U, Pezzilli R, Porta M, Purdue M, Quiros JR, Riboli E, Rothman N, Scarpa A, Scelo G, Shu XO, Silverman DT, Soucek P, Strobel O, Sund M, Małecka-Panas E, Taylor PR, Tavano F, Travis RC, Thornquist M, Tjønneland A, Tobias GS, Trichopoulos D, Vashist Y, Vodicka P, Wactawski-Wende J, Wentzensen N, Yu H, Yu K, Zeleniuch-Jacquotte A, Kooperberg C, Risch HA, Jacobs EJ, Li D, Fuchs C, Hoover R, Hartge P, Chanock SJ, Petersen GM, Stolzenberg-Solomon RS, Wolpin BM, Kraft P, Klein AP, Canzian F, Amundadottir LT. Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. Oncotarget 2016, 7: 66328-66343. PMID: 27579533, PMCID: PMC5340084, DOI: 10.18632/oncotarget.11041.Peer-Reviewed Original ResearchConceptsPancreatic tissue samplesControl subjectsSingle nucleotide polymorphismsTissue samplesPancreatic Cancer Case-Control ConsortiumCase-control studyPancreatic cancer riskSusceptibility variantsGenome-wide association studiesChromosome 1q32.1Risk lociCancer riskNew susceptibility variantsNR5A2 expressionCancer susceptibility variantsIndependent risk variantsMarked reductionTumorsEuropean descentRisk variantsDisease researchNucleotide polymorphismsCancer risk lociTarget genesSubjectsRisk 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 mutationsBreastRiskMutationsSubjectsCellsNoncarriersMortalityWomen
2012
Body mass index in relation to oesophageal and oesophagogastric junction adenocarcinomas: a pooled analysis from the International BEACON Consortium
Hoyo C, Cook MB, Kamangar F, Freedman ND, Whiteman DC, Bernstein L, Brown LM, Risch HA, Ye W, Sharp L, Wu AH, Ward MH, Casson AG, Murray LJ, Corley DA, Nyrén O, Pandeya N, Vaughan TL, Chow WH, Gammon MD. Body mass index in relation to oesophageal and oesophagogastric junction adenocarcinomas: a pooled analysis from the International BEACON Consortium. International Journal Of Epidemiology 2012, 41: 1706-1718. PMID: 23148106, PMCID: PMC3535758, DOI: 10.1093/ije/dys176.Peer-Reviewed Original ResearchConceptsOesophagogastric junction adenocarcinomaBody mass indexGERD symptomsOdds ratioMass indexGastro-oesophageal reflux symptomsStudy-specific odds ratiosInternational BEACON ConsortiumRisk of oesophagealEffect of obesityConfidence intervalsIndividual participant dataReflux symptomsJunction adenocarcinomaOesophagogastric junctionPooled analysisControl subjectsOA casesEffect modificationBMIEpidemiological studiesOesophagealSymptomsPreventive effortsLogistic regression
2010
ABO Blood Group, Helicobacter pylori Seropositivity, and Risk of Pancreatic Cancer: A Case–Control Study
Risch HA, Yu H, Lu L, Kidd MS. ABO Blood Group, Helicobacter pylori Seropositivity, and Risk of Pancreatic Cancer: A Case–Control Study. Journal Of The National Cancer Institute 2010, 102: 502-505. PMID: 20181960, PMCID: PMC2902822, DOI: 10.1093/jnci/djq007.Peer-Reviewed Original ResearchMeSH KeywordsABO Blood-Group SystemAdultAgedAged, 80 and overAntibodies, BacterialAntigens, BacterialBacterial ProteinsCase-Control StudiesConfounding Factors, EpidemiologicConnecticutEnzyme-Linked Immunosorbent AssayFemaleHelicobacter InfectionsHelicobacter pyloriHumansIncidenceMaleMiddle AgedOdds RatioPancreatic NeoplasmsConceptsNon-O blood typeH pylori seropositivityCase-control studyPancreatic cancerPylori seropositivityABO blood groupEnzyme-linked immunosorbent assayBlood typeBlood groupPopulation-based case-control studyNon-O blood groupControl subjects frequencyH pylori colonizationVirulence protein CagAHelicobacter pylori seropositivityPancreatic cancer riskO blood typeRandom digit dialingCagA seropositivityCase patientsH pyloriControl subjectsRisk factorsPylori colonizationCancer risk
1997
Tobacco, Alcohol, and Socioeconomic Status and Adenocarcinomas of the Esophagus and Gastric Cardia
Gammon M, Ahsan H, Schoenberg J, West A, Rotterdam H, Niwa S, Blot W, Risch H, Dubrow R, Mayne S, Vaughan T, Stanford J, Farrow D, Chow W, Fraumeni J. Tobacco, Alcohol, and Socioeconomic Status and Adenocarcinomas of the Esophagus and Gastric Cardia. Journal Of The National Cancer Institute 1997, 89: 1277-1284. PMID: 9293918, DOI: 10.1093/jnci/89.17.1277.Peer-Reviewed Original ResearchConceptsEsophageal squamous cell carcinomaGastric cardiaSquamous cell carcinomaCell carcinomaGastric adenocarcinomaRisk factorsTumor typesNoncardia gastric adenocarcinomaDuration of smokingCurrent cigarette smokersRisk of esophagealMajor risk factorCase-control studyGastric cardia adenocarcinomaEarly-stage carcinogenesisCigarette smokersHigher ORsControl subjectsIncidence rateSimilar ORsCardia adenocarcinomaEstimates of riskAdenocarcinomaCardiaSmoking