11q13 is a susceptibility locus for hormone receptor positive breast cancer.

DietherLambrechts; ThereseTruong; ChristinaJustenhoven; Manjeet KHumphreys; JeanWang; John LHopper; Gillian SDite; CarmelApicella; Melissa CSouthey; Marjanka KSchmidt; +143 more... AnnegienBroeks; StenCornelissen; Richardvan Hien; ElinorSawyer; IanTomlinson; MichaelKerin; NicolaMiller; Roger LMilne; M PilarZamora; José Ignacio AriasPérez; JavierBenítez; UteHamann; Yon-DschunKo; ThomasBrüning; GENICA Network; JennyChang-Claude; UrselEilber; RebeccaHein; StefanNickels; DieterFlesch-Janys; ShanWang-Gohrke; Esther MJohn; AlexanderMiron; RobertWinqvist; KatriPylkäs; ArjaJukkola-Vuorinen; MerviGrip; GeorgiaChenevix-Trench; JonathanBeesley; XiaoqingChen; Investigators kConFab; Australian Ovarian Cancer Study Group; FlorenceMenegaux; EmilieCordina-Duverger; Chen-YangShen; Jyh-CherngYu; Pei-EiWu; Ming-FengHou; Irene LAndrulis; TeresaSelander; GordGlendon; Anna MarieMulligan; HodaAnton-Culver; ArgyriosZiogas; Kenneth RMuir; ArtitayaLophatananon; SutheeRattanamongkongul; PuttisakPuttawibul; MichaelJones; NicholasOrr; AlanAshworth; AnthonySwerdlow; GianlucaSeveri; LauraBaglietto; GrahamGiles; MelissaSouthey; FederikMarmé; AndreasSchneeweiss; ChristofSohn; BarbaraBurwinkel; Betul TYesilyurt; PatrickNeven; RobertParidaens; HansWildiers; HermannBrenner; HeikoMüller; VolkerArndt; ChristaStegmaier; AlfonsMeindl; SarahSchott; Claus RBartram; Rita KSchmutzler; AngelaCox; Ian WBrock; GraemeElliott; Simon SCross; Peter AFasching; RuedigerSchulz-Wendtland; Arif BEkici; Matthias WBeckmann; OliviaFletcher; NicholaJohnson; Isabel Dos SantosSilva; Julian Peto ORCID logo; HeliNevanlinna; Taru AMuranen; KristiinaAittomäki; CarlBlomqvist; ThiloDörk; PeterSchürmann; MichaelBremer; PeterHillemanns; Natalia VBogdanova; Natalia NAntonenkova; Yuri IRogov; Johann HKarstens; ElzaKhusnutdinova; MarinaBermisheva; DaryaProkofieva; ShamilGancev; AnnaJakubowska; JanLubinski; KatarzynaJaworska; KatarzynaDurda; Børge GNordestgaard; Stig EBojesen; CharlotteLanng; ArtoMannermaa; VesaKataja; Veli-MattiKosma; Jaana MHartikainen; PaoloRadice; PaoloPeterlongo; SiranoushManoukian; LorisBernard; Fergus JCouch; Janet EOlson; XianshuWang; ZacharyFredericksen; Grethe GrenakerAlnaes; VesselaKristensen; Anne-LiseBørresen-Dale; PeterDevilee; Robert AEMTollenaar; Caroline MSeynaeve; Maartje JHooning; MontserratGarcía-Closas; Stephen JChanock; JolantaLissowska; Mark ESherman; PerHall; JianjunLiu; KamilaCzene; DaeheeKang; Keun-YoungYoo; Dong-YoungNoh; AnnikaLindblom; SaraMargolin; Alison MDunning; Paul DPPharoah; Douglas FEaston; PascalGuénel; HiltrudBrauch; (2012) 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Human mutation, 33 (7). pp. 1123-1132. ISSN 1059-7794 DOI: 10.1002/humu.22089
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A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10(-9) ) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10(-39) ). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.


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