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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
Evaluation of American Joint Committee on Cancer, International Union Against Cancer, and Brigham and Women's Hospital tumor staging for cutaneous squamous cell carcinoma
Dec 2013
To compare American Joint Committee on Cancer (AJCC), International Union Against Cancer (UICC), and Brigham and Women's Hospital (BWH) tumor (T) staging systems for cutaneous squamous cell carcinoma and validate BWH staging against prior data.
Publication: Journal of Clinical Oncology
Sufficiency of FNAB aspirates of posterior uveal melanoma for cytologic versus GEP classification in 159 patients, and relative prognostic significance of these classifications
Nov 2013
To determine the relative sufficiency of paired aspirates of posterior uveal melanomas obtained by FNAB for cytopathology and GEP, and their prognostic significance for predicting death from metastasis.
Publication: Graefes Arch Clin Exp Ophthalmol
SF3B1 mutations are associated with alternative splicing in uveal melanoma
Oct 2013
Our data show that despite its dismal prognosis, uveal melanoma is a relatively simple genetic disease characterized by recurrent chromosomal losses and gains and a low mutational burden. We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing.
Publication: Cancer Discovery
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
Jun 2013
Gene expression profiles and chromosome 3 copy number divide uveal melanomas into two distinct classes correlating with prognosis. Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize.
Publication: Nature Genetics
The DecisionDx-UM gene expression profile test provides risk stratification and individualized patient care in uveal melanoma
Apr 2013
Uveal melanoma (UM) is the most common primary cancer of the eye and has a strong propensity for metastasis. Although there have been many recent improvements in the diagnosis and treatment of UM, and only 2-4% of patients present with detectable metastasis, up to half of patients are at risk for dying of metastatic disease.
Publication: PLOS Currents
Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases
Mar 2013
Publication: Pigment Cell Melanoma Res
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
Jan 2013
Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis.
Publication: Nature Genetics