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Scientific Evidence
Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma
Apr 2016
We analyzed genomics data from 136 uveal melanoma samples and found a recurrent mutation in CYSLTR2 (cysteinyl leukotriene receptor 2) encoding a p.Leu129Gln substitution in 4 of 9 samples that lacked mutations in GNAQ, GNA11, and PLCB4 but in 0 of 127 samples that harbored mutations in these genes.
Publication: Nature Genetics
A cost-effectiveness analysis of a cancer risk prediction test for patients with Barrett’s esophagus
Apr 2016
The individualized risk prediction test has the potential to improve the efficiency of endoscopic surveillance in BE and to enable early intervention as needed.
Publication: Poster presentation (Sa 1261) at DDW 2016, San Diego
A novel tissue systems pathology test predicts progression in Barrett’s esophagus patients
Apr 2016
TissueCypher better predicts progression in BE than clinicopathologic variables, and can improve on histology as a method to risk stratify patients with BE.
Publication: Podium presentation (301) at DDW 2016, San Diego
A novel tissue systems pathology test predicts progression in Barrett’s esophagus patients
Apr 2016
TissueCypher better predicts progression in BE than clinicopathologic variables, and can improve on histology as a method to risk stratify patients with BE.
Publication: Podium presentation (301) at DDW 2016, San Diego
A cost-effectiveness analysis of a cancer risk prediction test for patients with Barrett’s esophagus
Apr 2016
The individualized risk prediction test has the potential to improve the efficiency of endoscopic surveillance in BE and to enable early intervention as needed.
Publication: Poster presentation (Sa1261) at DDW 2016, San Diego
PRAME as an independent biomarker for metastasis in uveal melanoma
Mar 2016
Uveal melanoma (UM) can be classified by gene expression profiling (GEP) into Class 1 (low metastatic risk) and Class 2 (high metastatic risk), the latter being strongly associated with mutational inactivation of the tumor suppressor BAP1. Nevertheless, a small percentage of Class 1 tumors give rise to metastatic disease. The purpose of this study was to identify biomarkers of metastasis in Class 1 tumors.
Publication: Clinical Cancer Research
Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility
Jan 2016
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4
Dec 2015
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. To search for additional driver mutations in this tumor type we carried out whole-genome or whole-exome sequencing of 28 tumors or primary cell lines. These samples have a low mutation burden, with a mean of 10.6 protein changing mutations per sample (range 0 to 53).
Publication: Oncotarget
TissueCypher: a systems biology approach to anatomic pathology
Dec 2015
A quantitative, multiplexed biomarker imaging approach termed TissueCypher™ that applies systems biology to anatomic pathology.
Publication: Journal of Pathology Informatics
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