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Review
. 2018 Sep 1;124(17):3490-3499.
doi: 10.1002/cncr.31345. Epub 2018 Apr 17.

Melanoma: What do all the mutations mean?

Elizabeth J Davis  1 , Douglas B Johnson  1 , Jeffrey A Sosman  2 , Sunandana Chandra  2
Affiliations
Review

Melanoma: What do all the mutations mean?

Elizabeth J Davis et al. Cancer. .

Abstract

Melanoma is one of the most highly mutated malignancies, largely as a function of its generation through ultraviolet light and other mutational processes. The wide array of mutations in both "driver" and "passenger" genes can present a confusing array of data for practitioners, particularly within the context of the recent revolutions in targeted and immune therapy. Although mutations in BRAF V600 clearly confer sensitivity to BRAF and mitogen-activated protein kinase kinase (MEK) inhibitors, the clinical implications of most other mutations are less often discussed and understood. In this review, we provide an overview of the high-frequency genomic alterations and their prognostic and therapeutic relevance in melanoma.

Keywords: BRAF; KIT; NRAS; cyclin-dependent kinase inhibitor 2A (CDKN2A); melanoma; mutation; programmed cell death protein 1 (PD-1).

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Conflict of interest statement

Conflicts of interest: DBJ: Advisory boards for BMS, Incyte, Novartis, Merck. JAS: Advisory boards for Array, Incyte, Merck.

Figures

Figure
Figure
Schematic of relevant cell signaling pathways and frequency of mutations
See this image and copyright information in PMC

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