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Authors: L. Isabel Cárdenas-Navia, Pedro Cruz, Jimmy C. Lin, NISC Comparative Sequencing Program, Steven A. Rosenberg and Yardena Samuels

L. Isabel Cárdenas-Navia

Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA

Pedro Cruz

Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA

Jimmy C. Lin

The Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA

NISC Comparative Sequencing Program

Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA; NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA

Steven A. Rosenberg

5Surgery Branch, National Cancer Institute, NIH, Bethesda, Maryland, USA

Yardena Samuels

Corresponding author: samuelsy@mail.nih.gov
National Human Genome Research Institute/NIH; Bethesda, MD

Abstract:
  Heterotrimeric guanine nucleotide-binding proteins (G proteins) mediate signals between G-protein coupled receptors and their downstream pathways, and have been shown to be mutated in cancer.  In particular, GNAQ was found to be frequently mutated in blue nevi of the skin and uveal melanoma, acting as an oncogene in its mutated form.  To further examine the role of heterotrimeric G proteins in malignant melanoma, we performed a comprehensive mutational analysis of the 35 genes in the heterotrimeric G protein gene family in a panel of 80 melanoma samples.  Somatic alterations in a G protein subunit were detected in 17% of samples spanning 7 genes.  The highest rates of somatic, non-synonymous mutations were found in GNG10 and GNAZ, neither of which has been previously reported to be mutated in melanoma. Our study is the first systematic analysis of the heterotrimeric G proteins in melanoma and indicates that multiple mutated heterotrimeric G proteins may be involved in melanoma progression.

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