Article
Activating ESR1 mutations in hormone-resistant metastatic breast cancer.
Nature genetics - 1 Dec 2013
Robinson Dan R, Wu Yi-Mi, Vats Pankaj, Su Fengyun, Lonigro Robert J, Cao Xuhong, Kalyana-Sundaram Shanker, Wang Rui, Ning Yu, Hodges Lynda, Gursky Amy, Siddiqui Javed, Tomlins Scott A, Roychowdhury Sameek, Pienta Kenneth J, Kim Scott Y, Roberts J Scott, Rae James M, Van Poznak Catherine H, Hayes Daniel F, Chugh Rashmi, Kunju Lakshmi P, Talpaz Moshe, Schott Anne F, Chinnaiyan Arul M
Abstract excerpt
Breast cancer is the most prevalent cancer in women, and over two-thirds of cases express estrogen receptor-α (ER-α, encoded by ESR1). Through a prospective clinical sequencing program for advanced cancers, we enrolled 11 patients with ER-positive metastatic breast cancer. Whole-exome and transcriptome analysis showed that six cases harbored mutations of ESR1 affecting its ligand-binding domain (LBD), all of whom...
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