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Expert Review of Molecular Diagnostics Volume 12, 2012 - Issue 6
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Review

Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testing

Frank S Ong Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA. [email protected]
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Kingshuk Das Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
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Jay Wang Baylor College of Medicine, Department of Medicine, Houston, TX 77030, USA; Premiere Oncology, Naples, FL 34102, USA; Baylor College of Medicine, Department of Medicine, Houston, TX 77030, USA; Premiere Oncology, Naples, FL 34102, USA
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Hana Vakil Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
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Jane Z Kuo Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
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Wendell-Lamar B Blackwell Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
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Stephen W Lim Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
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Mark O Goodarzi Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
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Kenneth E Bernstein Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pathology and Laboratory Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pathology and Laboratory Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
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Jerome I Rotter Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
&
Wayne W Grody Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
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Pages 593-602 | Published online: 09 Jan 2014
 
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Abstract

In the field of oncology, clinical molecular diagnostics and biomarker discoveries are constantly advancing as the intricate molecular mechanisms that transform a normal cell into an aberrant state in concert with the dysregulation of alternative complementary pathways are increasingly understood. Progress in biomarker technology, coupled with the companion clinical diagnostic laboratory tests, continue to advance this field, where individualized and customized treatment appropriate for each individual patient define the standard of care. Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4–ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR–ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.

Financial & competing interests disclosure

This work was supported by NIH grant F32 HL105036 (FS Ong) and Cedars–Sinai Medical Center Clinical and Translational Science Institute Clinical Scholars Award (FS Ong). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

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