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Scientific Evidence
Genomic research in uveal melanoma
Dec 2010
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.
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 pathway. However, 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%).
Publication: Nature
Oncogenic mutations in GNAQ occur early in uveal melanoma
Sep 2008
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.
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.
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.
Publication: Cancer Research