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BRCA in Breast Cancer: From Risk Assessment to Therapeutic Prediction

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Diamond JR, Borges VF, Eckhardt SG, Jimeno A.

Division of Medical Oncology, Department of Medicine, University of Colorado Cancer Center, University of Colorado at Denver Anschutz Medical Campus, Aurora, Colorado, USA. antonio.jimeno@ucdenver.edu.

BRCA1/2 mutations are the most commonly identified germ line gene mutations in patients with hereditary breast cancer. These proteins have many critical cellular functions, including repair of DNA double-strand breaks. The role of defective BRCA1/2 as a predictor of response to DNA-damaging agents has been studied extensively in preclinical models, but prospective clinical validation is lacking. Poly [ADP-ribose] polymerase (PARP) inhibitors illustrate the concept of synthetic lethality in cells with defective BRCA1/2 and numerous PARP inhibitors are being evaluated in patients with BRCA1/2-associated tumors. BRCA1/2 mutation or functional loss will likely serve as a useful predictive biomarker of response to treatment with PARP inhibitors. Copyright 2009 Prous Science, S.A.U. or its licensors. All rights reserved.
Drug News Perspect. 2009 Dec;22(10):603-8.

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