2016
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes
Cuellar-Partida G, Lu Y, Dixon SC, Australian Ovarian Cancer Study, Fasching PA, Hein A, Burghaus S, Beckmann MW, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty JA, Rossing MA, Chang-Claude J, Rudolph A, Wang-Gohrke S, Goodman MT, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum IB, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari LM, Edwards RP, Kelley JL, Modugno F, Moysich KB, Ness RB, Cannioto R, Høgdall E, Høgdall C, Jensen A, Giles GG, Bruinsma F, Kjaer SK, Hildebrandt MA, Liang D, Lu KH, Wu X, Bisogna M, Dao F, Levine DA, Cramer DW, Terry KL, Tworoger SS, Stampfer M, Missmer S, Bjorge L, Salvesen HB, Kopperud RK, Bischof K, Aben KK, Kiemeney LA, Massuger LF, Brooks-Wilson A, Olson SH, McGuire V, Rothstein JH, Sieh W, Whittemore AS, Cook LS, Le ND, Blake Gilks C, Gronwald J, Jakubowska A, Lubiński J, Kluz T, Song H, Tyrer JP, Wentzensen N, Brinton L, Trabert B, Lissowska J, McLaughlin JR, Narod SA, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Campbell I, Gayther SA, Gentry-Maharaj A, Menon U, Ramus SJ, Wu AH, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham JM, Fridley BL, Winham SJ, Bandera EV, Poole EM, Morgan TK, Goode EL, Schildkraut JM, Pearce CL, Berchuck A, Pharoah PD, Webb PM, Chenevix-Trench G, Risch HA, MacGregor S. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes. Human Genetics 2016, 135: 741-756. PMID: 27075448, PMCID: PMC4976079, DOI: 10.1007/s00439-016-1663-9.Peer-Reviewed Original ResearchConceptsGenetic architectureEpithelial ovarian cancerGenetic correlationsCross-trait LD-score regressionLD score regressionSignificant genetic correlationsGenetic variants confer susceptibilityChromosome sizeAssociated lociICOGS arrayHigh-grade serous diseaseTotal heritabilityGenetic backgroundScore regressionHigh-grade subtypesClear cell carcinomaGenetic overlapHeritabilityOvarian Cancer Association ConsortiumEOC subtypesEOC patientsHistological subtypesCell carcinomaCommon cancerSerous disease
2015
Shared genetics underlying epidemiological association between endometriosis and ovarian cancer
Lu Y, Cuellar-Partida G, Painter JN, Nyholt DR, Study A, Consortium T, Morris A, Fasching P, Hein A, Burghaus S, Beckmann M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty J, Rossing M, Wicklund K, 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, 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, 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, Gawełko J, 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, 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, Webb P, Pearce C, Berchuck A, Pharoah P, Montgomery G, Zondervan K, Chenevix-Trench G, MacGregor S, Consortium T, Anderson C, Gordon S, Guo Q, Henders A, Lambert A, Lee S, Kraft P, Kennedy S, Macgregor S, Martin N, Missmer S, Montgomery G, Morris A, Nyholt D, Painter J, Roseman F, Treloar S, Visscher P, Wallace L, Zondervan K. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer. Human Molecular Genetics 2015, 24: 5955-5964. PMID: 26231222, PMCID: PMC4581608, DOI: 10.1093/hmg/ddv306.Peer-Reviewed Original ResearchConceptsOvarian cancerEpidemiological associationGenetic correlationsSerous carcinomaFull genome coverageStrong genetic correlationLow-grade serous carcinomaHigh-grade serous carcinomaGenetic susceptibility lociClear cell carcinomaPolygenic architectureWeak genetic correlationsOvarian cancer datasetSusceptibility lociOvarian cancer susceptibilityPolygenic effectsCertain histotypesMucinous typeCell carcinomaEndometrioid carcinomaGenetic variantsFallopian tubeOvarian adenocarcinomaClear cellsEndometriosis