No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Douglas F EastonFabienne LesueurBrennan DeckerKyriaki MichailidouJun LiJamie AllenCraig LuccariniKaren A PooleyMitul ShahManjeet K BollaQin WangJoe DennisJamil AhmadElla R ThompsonFrancesca DamiolaMaroulio PertesiCatherine VoegeleNoura MebiroukNivonirina RobinotGeoffroy DurandNathalie ForeyRobert N LubenShahana AhmedKristiina AittomäkiHoda Anton-CulverVolker Arndtnull nullCaroline BaynesMatthias W BeckmanJavier BenitezDavid Van Den BergWilliam J BlotNatalia V BogdanovaStig E BojesenHermann BrennerJenny Chang-ClaudeKee Seng ChiaJi-Yeob ChoiDon M ConroyAngela CoxSimon S CrossKamila CzeneHatef DarabiPeter DevileeMikael ErikssonPeter A FaschingJonine FigueroaHenrik FlygerFlorentia FostiraMontserrat García-ClosasGraham G GilesGord GlendonAnna González-NeiraPascal GuénelChristopher A HaimanPer HallSteven N HartMikael HartmanMaartje J HooningChia-Ni HsiungHidemi ItoAnna JakubowskaPaul A JamesEsther M JohnNichola JohnsonMichael JonesMaria KabischDaehee Kangnull nullVeli-Matti KosmaVessela KristensenDiether LambrechtsNa Linull nullAnnika LindblomJirong LongArtitaya LophatananonJan LubinskiArto MannermaaSiranoush ManoukianSara MargolinKeitaro MatsuoAlfons MeindlGillian MitchellKenneth Muirnull nullInes NevelsteenAns van den OuwelandPaolo PeterlongoSze Yee PhuahKatri PylkäsSimone M RowleySuleeporn SangrajrangRita K SchmutzlerChen-Yang ShenXiao-Ou ShuMelissa C SoutheyHarald SurowyAnthony SwerdlowSoo H TeoRob A E M TollenaarIan TomlinsonDiana TorresThérèse TruongCeline VachonSenno VerhoefMichelle Wong-BrownWei ZhengYing ZhengHeli NevanlinnaRodney J ScottIrene L AndrulisAnna H WuJohn L HopperFergus J CouchRobert WinqvistBarbara BurwinkelElinor J SawyerMarjanka K SchmidtAnja RudolphThilo DörkHiltrud BrauchUte HamannSusan L NeuhausenRoger L MilneOlivia FletcherPaul D P PharoahIan G CampbellAlison M DunningFlorence Le Calvez-KelmDavid E GoldgarSean V TavtigianGeorgia Chenevix-TrenchPublished in: Journal of medical genetics (2016)
These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.