2020
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu‐full Z, Aittomäki K, Andrulis IL, Anton‐Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang‐Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collaborators G, Collaborators E, Collaborators G, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, dos‐Santos‐Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García‐Closas M, García‐Sáenz J, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González‐Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, Investigators A, Investigators H, Investigators B, Investigators O, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo W, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina‐Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park‐Simon T, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips K, Plaseska‐Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu X, Simard J, Singer CF, Skytte A, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen C, van den Ouweland A, van Rensburg E, Vega A, Viel A, Vieiro‐Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix‐Trench G, Zheng W, Kraft P, Jiang X. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genetic Epidemiology 2020, 44: 442-468. PMID: 32115800, PMCID: PMC7987299, DOI: 10.1002/gepi.22288.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyAssociation studiesWide association studyExpression quantitative lociGene expression dataTWAS approachConditional analysisBreast cancer risk genesQuantitative lociGenomic differencesLarge GWASExpression dataCancer risk genesGenesRisk genesBreast cancer genesCancer geneticsEstrogen receptor subtypesGWASOverall breast cancer riskER subtypesGTExSTXBP4Breast cancer geneticsLoci
2016
Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk
Lee AW, Ness RB, Roman LD, Terry KL, Schildkraut JM, Chang-Claude J, Doherty JA, Menon U, Cramer DW, Gayther SA, Risch H, Gentry-Maharaj A, Goodman MT, Modugno F, Eilber U, Moysich KB, Berchuck A, Rossing MA, Jensen A, Wicklund KG, Cushing-Haugen KL, Hogdall E, Rudolph A, Thompson PJ, Wilkens LR, Kjaer SK, Carney ME, Stram DO, Ramus SJ, Wu AH, Pike MC, Pearce CL. Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk. Obstetrics And Gynecology 2016, 127: 828-836. PMID: 27054934, PMCID: PMC4892111, DOI: 10.1097/aog.0000000000001387.Peer-Reviewed Original ResearchConceptsEndometrioid ovarian carcinomaTherapy useOvarian carcinomaPostmenopausal estrogenControl groupPopulation-based case-control studyCase-control studyOvarian carcinoma histotypesOvarian carcinoma riskConditional logistic regressionOvarian Cancer Association ConsortiumSerous ovarian carcinomaDuration of useTiming of useTherapy usersMenopausal estrogensPooled analysisRisk factorsSelf-reported questionnaire dataCarcinoma riskCarcinomaEstrogenRecent usersLogistic regressionHistotype
2015
Joint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk
Wang Z, Risch H, Lu L, Irwin ML, Mayne S, Schwartz P, Rutherford T, De Vivo I, Yu H. Joint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk. Scientific Reports 2015, 5: 15582. PMID: 26498156, PMCID: PMC4620445, DOI: 10.1038/srep15582.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskEndometrial cancerCancer riskEstrogen exposureEndometrial cancer patientsTime of studyGenetic risk scorePotential confoundersCancer patientsMenstrual cycleReproductive factorsRisk scorePossible markerMajor causeCancerMenopauseObesityPhenotypic featuresRiskPopulation controlsAgeMenarcheWomenExposureTNMC
1998
Hormonal Etiology of Epithelial Ovarian Cancer, With a Hypothesis Concerning the Role of Androgens and Progesterone
Risch HA. Hormonal Etiology of Epithelial Ovarian Cancer, With a Hypothesis Concerning the Role of Androgens and Progesterone. Journal Of The National Cancer Institute 1998, 90: 1774-1786. PMID: 9839517, DOI: 10.1093/jnci/90.23.1774.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerOvarian cancerIncessant ovulationOvarian epithelial cellsOvarian inclusion cystsEpithelial cellsRole of androgensGonadotropin hypothesisGonadotropin secretionGonadotropin stimulationHormonal etiologyColorectal cancerCancer deathInclusion cystsAndrogenic stimulationFrequent causeCancerGermline mutationsProgesterone stimulationHormonal stimulationOvulationStimulationAdditional major factorAndrogensProgesterone