2020
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, Collonge-Rame M, Cook J, Daly M, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding Y, Domchek S, Dorfling C, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans D, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz P, Garber J, Gehrig A, Gerdes A, Gesta P, Giraud S, Glendon G, Godwin A, Goldgar D, González-Neira A, Greene M, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst F, Hooning M, Horvath J, Hu C, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kast K, Koudijs M, Kruse T, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud J, Lubiński J, Mai P, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer H, Meindl A, Mensenkamp A, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Nielsen F, Nikitina-Zake L, Noguès C, Olah E, Olopade O, Ong K, O’Shaughnessy-Kirwan A, Osorio A, Ott C, Papi L, Park S, Parsons M, Pedersen I, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips K, Prajzendanc K, Pujana M, Radice P, Ramser J, Ramus S, Rantala J, Rennert G, Risch H, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah P, Sharma P, Side L, Singer C, Slavin T, Soucy P, Southey M, Spurdle A, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thull D, Tischkowitz M, Tognazzo S, Toland A, Trainer A, Tung N, van Engelen K, van Rensburg E, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel J, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch F, Schmutzler R, Simard J, Easton D, Chenevix-Trench G, Antoniou A. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics In Medicine 2020, 22: 1653-1666. PMID: 32665703, PMCID: PMC7521995, DOI: 10.1038/s41436-020-0862-x.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerPathogenic variant carriersProspective cohortPolygenic risk scoresVariant carriersCancer riskRisk scoreStrong associationEOC riskHigh-grade serous epithelial ovarian cancerSerous epithelial ovarian cancerER-positive BCBRCA2 pathogenic variantsCarriers of BRCA1Absolute risk differenceEpithelial ovarian cancer riskGeneral population estimatesOvarian cancer riskHR estimatesBRCA2 pathogenic variant carriersBRCA1 carriersBRCA1/2 carriersOvarian cancerBC riskEstrogen receptor
2017
Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study
Ong J, Hwang L, Cuellar-Partida G, Martin N, Chenevix-Trench G, Quinn M, Cornelis M, Gharahkhani P, Webb P, MacGregor S, Ong J, Hwang L, Cuellar-Partida G, Bryne E, Fasching P, Hein A, Burghaus S, Beckmann M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Swerdlow A, Jones M, Orr N, Schoemaker M, Edwards D, Brenton J, Benítez J, García M, Rodriguez-Antona C, Rossing M, Fortner R, Riboli E, Chang-Claude J, Eilber U, Wang-Gohrke S, Yannoukakos D, Goodman M, Bogdanova N, Dörk T, Duerst M, Hillemanns P, Runnebaum I, Antonenkova N, Butzow R, Nevanlinna H, Pelttari L, Edwards R, Kelley J, Modugno F, Moysich K, Ness R, Cannioto R, Heitz F, Karlan B, Olsson H, Kjaer S, Jensen A, Giles G, Bruinsma F, Hildebrandt M, Liang D, Wu X, Le Marchand L, Setiawan V, Permuth J, Bisogna M, Dao F, Levine D, Cramer D, Terry K, Tworoger S, Stampfer M, Willet W, Missmer S, Bjorge L, Kopperud R, Bischof K, Thomsen L, Kiemeney L, Massuger L, Pejovic T, Brooks-Wilson A, Olson S, McGuire V, Rothstein J, Sieh W, Whittemore A, Cook L, Le N, Gilks C, Gronwald J, Jakubowska A, Lubiński J, Kluz T, Wentzensen N, Brinton L, Trabert B, Lissowska J, Høgdall E, Høgdall C, Sandler D, Wolk A, Tyrer J, Song H, Eccles D, Campbell I, Glasspool R, McNeish I, Paul J, Siddiqui N, Sutphen R, McLaughlin J, Phelan C, Anton-Culver H, Ziogas A, May T, Gayther S, Gentry-Maharaj A, Menon U, Ramus S, Wu A, Huntsman D, deFazio A, Dansonka-Mieszkowska A, Kupryjanczyk J, Moes-Sosnowska J, Szafron L, Cunningham J, Winham S, Risch H, Goode E, Schildkraut J, Pearce C, Berchuck A, Pharoah P, Martin N, Chenevix-Trench G, Quinn M, Cornelis M, Gharahkhani P, Webb P, MacGregor S. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. International Journal Of Epidemiology 2017, 47: 450-459. PMID: 29186515, PMCID: PMC6186013, DOI: 10.1093/ije/dyx236.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerOvarian Cancer Association ConsortiumOvarian cancerObservational studyCoffee consumptionEOC riskEOC casesHigh-grade serous epithelial ovarian cancerMendelian randomizationSerous epithelial ovarian cancerModerate coffee consumptionHigh-grade serous casesMendelian randomization studyTwo-sample Mendelian randomizationAdditional cupProtective associationCaffeine consumptionHealth outcomesEarlier observational studiesRandomization studySerous casesStrong associationSingle nucleotide polymorphismsCaffeine levelsCancer
2016
Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study
Ong JS, Cuellar-Partida G, Lu Y, Study A, Fasching P, Hein A, Burghaus S, Beckmann M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty J, Rossing M, Chang-Claude J, Eilber U, Rudolph A, Wang-Gohrke S, Goodman M, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari L, Edwards R, Kelley J, Modugno F, Moysich K, Ness R, Cannioto R, Høgdall E, Høgdall C, Jensen A, Giles G, Bruinsma F, Kjaer S, Hildebrandt M, Liang D, Lu K, Wu X, Bisogna M, Dao F, Levine D, Cramer D, Terry K, Tworoger S, Stampfer M, Missmer S, Bjorge L, Salvesen H, Kopperud R, Bischof K, Aben K, Kiemeney L, Massuger L, Brooks-Wilson A, Olson S, McGuire V, Rothstein J, Sieh W, Whittemore A, Cook L, Le N, Gilks C, Gronwald J, Jakubowska A, Lubiński J, Kluz T, Song H, Tyrer J, Wentzensen N, Brinton L, Trabert B, Lissowska J, McLaughlin J, Narod S, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Campbell I, Gayther S, Gentry-Maharaj A, Menon U, Ramus S, Wu A, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham J, Fridley B, Winham S, Bandera E, Poole E, Morgan T, Risch H, Goode E, Schildkraut J, Pearce C, Berchuck A, Pharoah P, Chenevix-Trench G, Gharahkhani P, Neale R, Webb P, MacGregor S. Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study. International Journal Of Epidemiology 2016, 45: 1619-1630. PMID: 27594614, PMCID: PMC5100621, DOI: 10.1093/ije/dyw207.Peer-Reviewed Original ResearchConceptsVitamin D levelsOvarian cancerVitamin DD levelsOdds ratioObservational studySingle nucleotide polymorphismsD concentrationsPlasma vitamin D levelsHigh-grade serous ovarian cancerHigh-grade serous epithelial ovarian cancerMendelian randomizationSerous epithelial ovarian cancerEpithelial ovarian cancer riskEpithelial ovarian cancerOvarian cancer riskOvarian Cancer Association ConsortiumSerous ovarian cancerObservational epidemiological studiesTwo-sample MR approachInverse variance weightingMendelian randomization studyOvarian cancer susceptibilityCancer preventionCancer risk
2015
Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer
Lawrenson K, Li Q, Kar S, Seo JH, Tyrer J, Spindler TJ, Lee J, Chen Y, Karst A, Drapkin R, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, James P, Jensen A, Ji B, Karlan B, Kruger Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lee A, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Ramus S, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tsai Y, Tworoger S, van Altena A, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Monteiro A, Pharoah P, Gayther S, Freedman M. Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer. Nature Communications 2015, 6: 8234. PMID: 26391404, PMCID: PMC4580986, DOI: 10.1038/ncomms9234.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCell Line, TumorFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHumansNeoplasm ProteinsNeoplasms, Glandular and EpithelialNuchal CordOvarian NeoplasmsProtein BindingQuantitative Trait LociConceptsCandidate susceptibility genesExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisChromosome conformation captureGenome-wide association studiesSusceptibility genesCis-eQTL analysisHigh-grade serous epithelial ovarian cancerAnchorage-independent growthConformation captureHOXD9 promoterTranscriptomic profilingCausal variantsFunctional validationRisk lociLocus analysisAssociation studiesBroader roleFunctional roleGenesContact inhibitionRisk variantsPopulation-doubling timePrecursor cellsHOXD9