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.

Author: Critchley-Thorne RJ, et al.

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.

Author: Field MG, et al.

Publication: Clinical Cancer Research

CYP2D6 copy number distribution in the US population

Feb 2016

CYP2D6 copy number variations may account for the single most impactful genetic anomaly as it relates to pharmacogenetic directed therapies.

Author: Beoris M, et al.

Publication: Pharmacogenetics and Genomics

Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility

Jan 2016

The evolution of pharmacogenetics has provided clinicians with a valuable tool that allows for a smarter, more fine-tuned approach to treating patients for a number of clinical conditions.

Author: Saldivar J, et al.

Publication: Pharmgenomics Pers Med.

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: GNAQGNA11EIF1AXSF3B1 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). 

Author: Johansson P, et al.

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.

Author: Prichard JW, et al.

Publication: Journal of Pathology Informatics

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.

Author: Prichard JW, et al.

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.

Author: Correa ZM, et al.

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.

Author: Gupta MP, et al.

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.

Author: Rai K, et al.

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.

Author: Clarke L, et al.

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.

Author: Gerami P, et al.

Publication: Journal of the American Academy of Dermatology