Scientific Evidence

Frequent mutation of BAP1 in metastasizing uveal melanomas

Dec 2010

Author: Harbour JW, et al.

Publication: Science

Mutations in GNA11 in uveal melanoma

Dec 2010

Uveal melanoma is the most common intraocular cancer. There are no effective therapies for metastatic disease. Mutations in GNAQ, the gene encoding an alpha subunit of heterotrimeric G proteins, are found in 40% of uveal melanomas.

Author: Van Raamsdonk CD, et al.

Publication: The New England Journal of Medicine

Genomic research in uveal melanoma

Dec 2010

Author: Harbour JW, et al.

Publication: Retinal Today

An accurate, clinically feasible multi-gene expression assay for predicting metastasis in uveal melanoma

Jul 2010

Uveal (ocular) melanoma is an aggressive cance rthat often forms undetectable micrometastases before diagnosis of the primary tumor. These micrometastases later multiply to generate metastatic tumors that are resistant to therapy and are uniformly fatal. We have previously identified a gene expression profile derived from the primary tumor that is extremely accurate for identifying patients at high risk of metastatic disease.

Author: Onken MD, et al.

Publication: Journal of Molecular Diagnostics

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Dec 2008

BRAF and NRAS are common targets for somatic mutations in benign and malignant neoplasms that arise from melanocytes situated in epithelial structures, and lead to constitutive activation of the mitogen-activated protein (MAP) kinase pathwayHowever, BRAF and NRAS mutations are absent in a number of other melanocytic neoplasms in which the equivalent oncogenic events are currently unknown. Here we report frequent somatic mutations in the heterotrimeric G protein α-subunit, GNAQ, in blue naevi (83%) and ocular melanoma of the uvea (46%). 

Author: Van Raamsdonk CD, et al.

Publication: Nature

Oncogenic mutations in GNAQ occur early in uveal melanoma

Sep 2008

Author: Onken MD, et al.

Publication: Invest Ophthalmol Vis Sci

Transcriptomic versus chromosomal prognostic markers and clinical outcome in uveal melanoma

Mar 2007

To compare gene expression – based classifier versus the standard genetic prognostic marker, monosomy 3, for predicting metastasis in uveal melanoma.

Author: Worley LA, et al.

Publication: Clinical Cancer Research AACR

Prognostic testing in uveal melanoma by transcriptomic profiling of fine needle biopsy specimens

Nov 2006

Many uveal melanoma patients die of metastasis despite ocular treatment. Transcriptomic profiling of enucleated tumors can identify patients at high metastatic risk.

Author: Onken MD, et al.

Publication: Journal of Molecular Diagnostics

Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death

Oct 2004

Melanomas are notoriously difficult to classify because of a lack of discrete clinical and pathological stages. Here, we show that primary uveal melanomas surprisingly cluster into two distinct molecular classes based on gene expression profile.

Author: Onken MD, et al.

Publication: Cancer Research