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Molecular Diagnostics and Tumor Mutational Analysis

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BRAF Targets in Melanoma

Part of the book series: Cancer Drug Discovery and Development ((CDD&D,volume 82))

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Abstract

Genetic and genomic analysis of melanoma tumor samples has identified a number of somatic mutations integral to melanoma pathogenesis, with the most prevalent mutation being the BRAF V600 mutation. Targeted inhibitors directed against this mutation have produced improved overall survival compared to chemotherapy. Multiple additional somatic mutations have been identified, and some also have prompted the development of therapy targeted against them. In this chapter, we review common techniques used to identify gene mutations and genomic aberrations, and briefly describe mutations important in melanoma pathogenesis. We also describe massively parallel sequencing and discuss advances that have been made in the identification of novel driver mutations in melanoma tumors. Finally, the application of these techniques with respect to clinical testing is addressed, specifically as they pertain to the development and advancement of personalized medicine.

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Authors and Affiliations

  1. Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, 16 Penn Tower, 19104, Philadelphia, PA, USA

    Melissa A. Wilson MD, PhD

  2. Division of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania, 351 BRB II/III, 421 Curie Blvd, 19104, Philadelphia, PA, USA

    Katherine L. Nathanson MD

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  1. Melissa A. Wilson MD, PhD
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  2. Katherine L. Nathanson MD
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Correspondence to Katherine L. Nathanson MD .

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  1. Center for Melanoma, Massachusetts General Hospital Cancer Center, Boston, Massachusetts, USA

    Ryan J. Sullivan

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Wilson, M., Nathanson, K. (2015). Molecular Diagnostics and Tumor Mutational Analysis. In: Sullivan, R. (eds) BRAF Targets in Melanoma. Cancer Drug Discovery and Development, vol 82. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2143-0_3

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  • DOI: https://doi.org/10.1007/978-1-4939-2143-0_3

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