Article
Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer.
Nature genetics - 1 Oct 2016
Bailey Swneke D, Desai Kinjal, Kron Ken J, Mazrooei Parisa, Sinnott-Armstrong Nicholas A, Treloar Aislinn E, Dowar Mark, Thu Kelsie L, Cescon David W, Silvester Jennifer, Yang S Y Cindy, Wu Xue, Pezo Rossanna C, Haibe-Kains Benjamin, Mak Tak W, Bedard Philippe L, Pugh Trevor J, Sallari Richard C, Lupien Mathieu
Abstract excerpt
Sustained expression of the estrogen receptor-α (ESR1) drives two-thirds of breast cancer and defines the ESR1-positive subtype. ESR1 engages enhancers upon estrogen stimulation to establish an oncogenic expression program. Somatic copy number alterations involving the ESR1 gene occur in approximately 1% of ESR1-positive breast cancers, suggesting that other mechanisms underlie the persistent expression of ESR1....
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