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Scientific evidence
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
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
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