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Dokumenttyp:
journal article 
Autor(en):
Dunning, AM; Michailidou, K; Kuchenbaecker, KB; Thompson, D; French, JD; Beesley, J; Healey, CS; Kar, S; Pooley, KA; Lopez-Knowles, E; Dicks, E; Barrowdale, D; Sinnott-Armstrong, NA; Sallari, RC; Hillman, KM; Kaufmann, S; Sivakumaran, H; Marjaneh, MM; Lee, JS; Hills, M; Jarosz, M; Drury, S; Canisius, S; Bolla, MK; Dennis, J; Wang, Q; Hopper, JL; Southey, MC; Broeks, A; Schmidt, MK; Lophatananon, A; Muir, K; Beckmann, MW; Fasching, PA; dos-Santos-Silva, I; Peto, J; Sawyer, EJ; Tomlinson, I; Burwi...    »
 
Titel:
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 
Abstract:
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER-) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER-tumors lie in four separate enhancer elements, and their risk a...    »
 
Zeitschriftentitel:
Nat Genet 
Jahr:
2016 
Band / Volume:
48 
Heft / Issue:
Seitenangaben Beitrag:
374-+ 
Sprache:
eng 
Print-ISSN:
1061-4036 
TUM Einrichtung:
Frauenklinik und Poliklinik