2019
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, Antoniou A, Goldgar D, Olopade O, Chenevix-Trench G, Rebbeck T, Huo D. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. British Journal Of Cancer 2019, 121: 180-192. PMID: 31213659, PMCID: PMC6738050, DOI: 10.1038/s41416-019-0492-8.Peer-Reviewed Original ResearchConceptsBody mass indexOvarian cancer riskBRCA1/2 mutation carriersBRCA2 mutation carriersCancer riskMutation carriersMass indexGeneral populationHigher ovarian cancer riskHigher body mass indexGenetic scoreOvarian cancer casesMendelian randomisation studyMendelian randomisation approachConsortium of InvestigatorsPostmenopausal womenPremenopausal womenMenopausal statusCancer casesCox modelConclusionOur observationsRandomisation approachM2 increaseRiskPositive association
2016
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer
Hampras SS, Sucheston-Campbell LE, Cannioto R, Chang-Claude J, Modugno F, Dörk T, Hillemanns P, Preus L, Knutson KL, Wallace PK, Hong CC, Friel G, Davis W, Nesline M, Pearce CL, Kelemen LE, Goodman MT, Bandera EV, Terry KL, Schoof N, Eng KH, Clay A, Singh PK, Joseph JM, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bean Y, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Despierre E, Dicks E, Doherty JA, du Bois A, Dürst M, Easton D, Eccles D, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hogdall C, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kelley JL, Kiemeney LA, Klapdor R, Kolomeyevskaya N, Krakstad C, Kjaer SK, Kruszka B, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Liu S, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Moes-Sosnowska J, Narod SA, Nedergaard L, Nevalinna H, Nickels S, Nevanlinna H, Olson S, Orlow I, Weber R, Paul J, Pejovic T, Pelttari L, Perkins B, Permuth-Wey J, Pike M, Plisiecka-Halasa J, Poole E, Risch H, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schernhammer E, Schmitt K, Schwaab I, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Tangen I, Teo S, Thompson P, Timorek A, Tsai Y, Tworoger S, Tyrer J, van Altena A, Vergote I, Vierkant R, Walsh C, Wang-Gohrke S, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Wu A, Wu X, Woo Y, Yang H, Zheng W, Ziogas A, Gayther S, Ramus S, Sellers T, Schildkraut J, Phelan C, Berchuck A, Chenevix-Trench G, Cunningham J, Pharoah P, Ness R, Odunsi K, Goode E, Moysich K. Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer. Oncotarget 2016, 7: 69097-69110. PMID: 27533245, PMCID: PMC5340115, DOI: 10.18632/oncotarget.10215.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdultAgedCarcinoma, Ovarian EpithelialFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IIReceptors, Transforming Growth Factor betaRisk FactorsT-Lymphocytes, RegulatoryConceptsOvarian cancerEpithelial ovarian cancer casesClear cell ovarian cancerClear cell EOCMediators of immunosuppressionSignificant global associationSubset of CD4Regulatory T cellsCell pathwaysOvarian cancer patientsOvarian cancer casesImmune complex receptorsGene-level associationsHistologic subtypeEOC patientsSignificant single SNP associationCancer patientsCancer casesT cellsT lymphocytesClear cellsImmune moleculesMRNA expressionCancerExpression levels
2009
Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer
Bentov Y, Brown TJ, Akbari MR, Royer R, Risch H, Rosen B, McLaughlin J, Sun P, Zhang S, Narod SA, Casper RF. Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer. PLOS ONE 2009, 4: e5918. PMID: 19526059, PMCID: PMC2691597, DOI: 10.1371/journal.pone.0005918.Peer-Reviewed Original ResearchConceptsOvarian cancerSingle nucleotide polymorphismsCandidate genesFibrinolytic systemGenesFunctional variantsFunctional SNPsNucleotide polymorphismsPolymorphic variationBlood clot degradationOvarian cancer casesFunctional effectsSNPsHistologic subgroupsRetrograde menstruationCancer casesClot degradationGenotype distributionBlood clotsSignificant associationCancerFibrin productsGermlineInefficient removalRisk
2008
Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis
Pearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.Peer-Reviewed Original ResearchConceptsEndometrioid ovarian cancerOvarian cancer riskProgesterone receptor geneCase-control studyOvarian cancerCancer riskSingle nucleotide polymorphismsPGR single-nucleotide polymorphismInvasive epithelial ovarian cancerOvarian cancer case-control studiesEpithelial ovarian cancerUnconditional logistic regressionCancer case-control studyOvarian cancer casesOvarian Cancer Association ConsortiumTwo-sided p valueEndometrioid subtypePROGINS alleleCancer casesBorderline evidencePROGINS variantSubtype analysisSignificant associationT variantCancer
2003
Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States)
Modugno F, Moslehi R, Ness RB, Nelson DB, Belle S, Kant JA, Wheeler JE, Wonderlick A, Fishman D, Karlan B, Risch H, Cramer DW, Dube MP, Narod SA. Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States). Cancer Causes & Control 2003, 14: 439-446. PMID: 12946038, DOI: 10.1023/a:1024932427503.Peer-Reviewed Original ResearchConceptsBRCA1 carriersOC useTubal ligationOvarian cancerReproductive factorsInvasive epithelial ovarian cancerFounder mutationOral contraceptive useHistory of breastfeedingEpithelial ovarian cancerOvarian cancer casesOvarian cancer riskBRCA1 founder mutationsBRCA2 mutation carriersAshkenazi founder mutationsCase-only studyNulliparous womenGynecologic surgeryBRCA1/2 carriersRisk factorsBRCA2 mutationsCancer casesLive birthsBRCA1/2 mutationsContraceptive use
1999
Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations.
Zweemer R, Shaw P, Verheijen R, Ryan A, Berchuck A, Ponder B, Risch H, McLaughlin J, Narod S, Menko F, Kenemans P, Jacobs I. Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. Journal Of Clinical Pathology 1999, 52: 372. PMID: 10560359, PMCID: PMC1023075, DOI: 10.1136/jcp.52.5.372.Peer-Reviewed Original ResearchConceptsOvarian cancer casesBRCA2 germline mutationsHereditary ovarian cancerOvarian cancerCancer casesP53 accumulationGermline mutationsSomatic genetic eventsInvasive ovarian cancer casesBRCA2 germline mutation carriersOvarian cancer patientsP53 proteinGermline mutation carriersGenetic eventsRole of p53Cancer patientsAntigen retrieval techniqueBRCA mutationsBRCA2 mutationsStudy groupMutation carriersP53 alterationsP53 immunohistochemistryGermline BRCA1Positive cases