Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Daniel R BarnesJonathan P TyrerJoe G DennisGoska LeslieManjeet K BollaMichael LushAmber M AeiltsKristiina AittomäkiNadine AndrieuIrene L AndrulisHoda Anton-CulverAdalgeir ArasonBanu K ArunJudith BalmañaElisa V BanderaRosa B BarkardottirLieke P V BergerAmy Berrington de GonzalezPascaline BerthetKatarzyna BiałkowskaLine BjørgeAmie M BlancoMarinus J BlokKristie A BobolisNatalia V BogdanovaJames D BrentonHenriett ButzSaundra S BuysMaria A CaligoIan CampbellCarmen CastilloKathleen B M Claesnull nullnull nullSarah V ColonnaLinda S CookMary B DalyAgnieszka Dansonka-MieszkowskaMiguel de la HoyaAnna deFazioAllison DePersiaYuan Chun DingSusan M DomchekThilo DörkZakaria EinbeigiChristoph EngelD Gareth EvansLenka ForetovaRenée T FortnerFlorentia FostiraMaria Cristina FotiEitan FriedmanMegan N FronePatricia A GanzAleksandra Gentry-MaharajGord GlendonAndrew K GodwinAnna González-NeiraMark H GreeneJacek GronwaldAliana Guerrieri-GonzagaUte HamannThomas V O HansenHolly R HarrisJan HaukeFlorian HeitzFrans B L HogervorstMaartje J HooningJohn L HopperChad D HuffDavid G HuntsmanEvgeny N Imyanitovnull nullLouise IzattAnna JakubowskaPaul A JamesRamunas JanaviciusEsther M JohnSiddhartha P KarBeth Y KarlanCatherine J KennedyLambertus A L M KiemeneyIrene KonstantopoulouJolanta KupryjanczykYael LaitmanOfer LavieKate LawrensonJenny LesterFabienne LesueurCarlos Lopez-PleguezuelosPhuong L MaiSiranoush ManoukianTaymaa MayIain A McNeishUsha MenonRoger L MilneFrancesmary ModugnoJennifer M MongioviMarco MontagnaKirsten B MoysichSusan L NeuhausenFinn C NielsenCatherine NoguèsEdit OláhOlufunmilayo I OlopadeAna OsorioLaura PapiHarsh PathakCeleste L PearceInge S PedersenAna PeixotoTanja PejovicPei-Chen PengBeth N PeshkinPaolo PeterlongoC Bethan PowellDarya ProkofyevaMiquel Angel PujanaPaolo RadiceMuhammad U RashidGad RennertGeorge RichenbergDale P SandlerNaoko SasamotoVeronica W SetiawanPriyanka SharmaWeiva SiehChristian F SingerKatie SnapeAnna P SokolenkoPenny SoucyMelissa C SoutheyDominique Stoppa-LyonnetRebecca SutphenChristian SutterManuel R TeixeiraKathryn L TerryLiv Cecilie V ThomsenMarc TischkowitzAmanda E TolandToon Van GorpAna VegaDigna R Velez EdwardsPenelope M WebbJeffrey N WeitzelNicolas WentzensenAlice S WhittemoreStacey J WinhamAnna H WuSiddhartha YadavYao YuArgyrios ZiogasAndrew BerchuckFergus J CouchEllen L GoodeMarc T GoodmanAlvaro N MonteiroKenneth OffitSusan J RamusHarvey A RischJoellen M SchildkrautMads ThomassenJacques SimardDouglas F EastonMichelle R JonesGeorgia Chenevix-TrenchSimon A GaytherAntonis C AntoniouPaul D P PharoahPublished in: medRxiv : the preprint server for health sciences (2024)
This study represents the largest GWAS for HGSOC to date. The results highlight that improvements in imputation reference panels and increased sample sizes can identify HGSOC associated variants that previously went undetected, resulting in improved PGS. The use of updated PGS in cancer risk prediction algorithms will then improve personalized risk prediction for HGSOC.