TY  -  
T1  - Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element 
SN  -  /  
UR  - http://hdl.handle.net/10138/340316 
T3  -  
A1  - kConFab Investigators; ABCTB Investigators; Baxter, Joseph S.; Nevanlinna, Heli 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific trans... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - SUSCEPTIBILITY LOCI; WIDE ASSOCIATION; IDENTIFICATION; TRANSCRIPTION; 11Q13; RNAS; 3122 Cancers 
N1  -   
PP  -  
ER  -