The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Inge M M LakemanAlexandra J van den BroekJuliën A M VosDaniel R BarnesJulian AdlardIrene L AndrulisAdalgeir ArasonNorbert ArnoldBanu K ArunJudith BalmañaDaniel BarrowdaleJavier BenitezAke BorgTrinidad CaldésMaria A CaligoWendy K ChungKathleen B M Claesnull nullnull nullJ Margriet ColléeFergus J CouchMary B DalyJoe DennisMallika DhawanSusan M DomchekRos EelesChristoph EngelD Gareth EvansLidia FeliubadalóLenka ForetovaEitan FriedmanDebra FrostPatricia A GanzJudy GarberSimon A GaytherAnne-Marie GerdesAndrew K GodwinDavid E GoldgarEric HahnenChristopher R HakeUte HamannFrans B L HogervorstMaartje J HooningJohn L HopperPeter J HulickEvgeny N Imyanitovnull nullnull nullnull nullClaudine IsaacsLouise IzattAnna JakubowskaPaul A JamesRamunas JanaviciusUffe Birk JensenYue JiaoEsther M JohnVijai JosephBeth Y KarlanCarolien M KetsIrene KonstantopoulouAva KwongClémentine LegrandGoska LeslieFabienne LesueurJennifer T LoudJan LubińskiSiranoush ManoukianLesley McGuffogAustin MillerDenise Molina GomesMarco MontagnaEmmanuelle Mouret-FourmeKatherine L NathansonSusan L NeuhausenHeli NevanlinnaJoanne Ngeow Yuen YieEdith OlahOlufunmilayo I OlopadeSue K ParkMichael T ParsonsPaolo PeterlongoMarion PiedmontePaolo RadiceJohanna RantalaGad RennertHarvey A RischRita K SchmutzlerPriyanka SharmaJacques SimardChristian F SingerZsofia StadlerDominique Stoppa-LyonnetChristian SutterYen Yen TanManuel R TeixeiraSoo Hwang TeoAlex TeuléMads ThomassenDarcy L ThullMarc TischkowitzAmanda E TolandNadine TungElizabeth J van RensburgAna VegaBarbara WappenschmidtPeter DevileeChristi J van AsperenJonine L BernsteinKenneth OffitDouglas F EastonMatti A RookusGeorgia Chenevix-TrenchAntonis C AntoniouMark RobsonMarjanka K SchmidtPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.