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Scientific evidence
Independent prognostic significance of gene expression profile class and largest basal diameter of posterior uveal melanomas
Nov 2015
Purpose: To determine whether any conventional clinical prognostic factors for metastasis from uveal melanoma retain prognostic significance in multivariate models incorporating gene expression profile (GEP) class of the tumor cells.
Publication: American Journal of Ophthalmology
Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations
Aug 2015
Somatic mutations in BAP1 (BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline BAP1 mutations in uveal melanoma has not been characterized.
Publication: JAMA Ophthalmology
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases
Jun 2015
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published research into BAP1-TPDS to more thoroughly delineate the clinical implications of germline BAP1 mutations.
Publication: Clinical Genetics
Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma
Mar 2015
Initial development and validation of the 23-GEP establishing a high level of sensitivity and specificity in a broad range of histopathological subtypes.
Publication: Journal of Cutaneous Pathology
Gene expression profiling for molecular staging of cutaneous melanoma in patients undergoing sentinel lymph node biopsy
Mar 2015
Assessment of the prognostic accuracy of GEP and sentinel lymph node biopsy (SLNB) tests, independently and in combination, in a multicenter cohort of 217 patients.
Publication: Journal of the American Academy of Dermatology
Analytical validation of a melanoma diagnostic gene signature using formalin-fixed paraffin-embedded melanocytic lesions
Mar 2015
Analytical validation study to establish precision, dynamic range, RNA yield, reproducibility, and melanin inhibition.
Publication: Biomarkers in Medicine
Development of a prognostic genetic signature to predict the metastatic risk associated with cutaneous melanoma
Jan 2015
Multicenter study shows clear and significant separation of risk between Class 1 and Class 2 result for DFS, DMFS, MSS, OS using Kaplan-Maier analysis.
Publication: Clinical Cancer Research
GNAQ and GNA11 mutations in uveal melanoma
Dec 2014
This review will discuss the multiple activated signaling targets downstream of mutant GNAQ and GNA11 in uveal melanoma, including MEK, PI3-kinase/Akt, protein kinase C, and YAP. This knowledge has led to the rapid expansion of clinical trials that are specific to patients with uveal melanoma and promises future breakthroughs in therapies.
Publication: Melanoma Res
Current clinical practice: differential management of uveal melanoma in the era of molecular tumor analyses
Dec 2014
Assess current clinical practices for uveal melanoma (UM) and the impact of molecular prognostic testing on treatment decisions.
Publication: Clin Ophthalmol
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in Uveal Melanoma
Aug 2014
Somatic mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1 have been identified in uveal melanoma (UM). The aim of this study was to determine whether mutations in these genes in primary tumors were associated with metastases in individuals diagnosed with UM.
Publication: Investigative Ophthalmology & Visual Science
Recent developments in prognostic and predictive testing in uveal melanoma
May 2014
Purpose of review: To provide an update on the rapidly evolving methods for assessing prognosis and predicting response to targeted molecular therapy in uveal melanoma.
Publication: Curr Opin Ophthalmol