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Molecular Diagnostics

underwent resection of tumor and adjacent normal tissue, followed by formalin fixation, pathologic characterization, and whole exome sequencing and analyses (Image courtesy of Giannakis et al 2016, Cell Reports).

Genomics Makeup of Colorectal Tumors Predicts Immune Response

A study based on whole-exome sequencing and immune response finds that colorectal cancers (CRCs) heavily bedecked with tumor-related neoantigens are likely to be permeated with disease-fighting white blood cells (WBCs). The discovery helps sharpen research into therapies that make tumors more vulnerable to such an attack and into companion diagnostics. More...
27 Apr 2016
Image: A micrograph of eosinophilic esophagitis (EoE), H&E stain. Characteristic features are present: Abundant eosinophils—criteria vary; one common definition is: > 20 eosinophils/0.24 mm2; Papillae are elongated; papillae reach into the top 1/3 of the epithelial layer; Basal cell hyperplasia; > 3 cells thick or >15% of epithelial thickness; Spongiosis (Photo courtesy of Wikimedia).

Pathway Implicated in Development of Eosinophilic Esophagitis

Scientists have identified a protein whose dysfunction appears to be involved in causing the tissue damage in patients with eosinophilic esophagitis (EoE). The finding may lead to improved pathology analysis, diagnostics, and specific drug therapies for patients. More...
26 Apr 2016
Image: A droplet digital polymerase chain reaction system (ddPCR) (Photo courtesy of Bio-Rad Laboratories).

Blood Test Detects Genetic Mutations in Lung Cancer

A simple blood test can rapidly and accurately detect mutations in two key genes in non-small-cell lung tumors, demonstrating the test's potential as a clinical tool for identifying patients who can benefit from drugs targeting those mutations. More...
26 Apr 2016
Image: The myRisk hereditary cancer screening collection kit (Photo courtesy of Myriad Genetic Laboratories).

Genetic Testing for Breast Cancer Patients Expanded

Next-generation sequencing (NGS) allows testing for mutations in additional breast cancer predisposition genes. The frequency of germline mutations detected by using NGS has been reported in patients with breast cancer who were referred for Breast Cancer Early Onset 1 and 2 (BRCA1/2) testing or with triple-negative breast cancer.  More...
21 Apr 2016
Image: The Corus CAD gene expression test for the evaluation of patients presenting with typical and atypical symptoms suggestive of coronary artery disease (Photo courtesy of CardioDx).

Blood Test Evaluated for Suspected Obstructive Coronary Artery Disease

Coronary artery disease (CAD) also known as ischemic heart disease is a very common heart condition in the USA and one in seven deaths among Americans is caused by CAD. A common symptom is chest pain or discomfort, which may travel into the shoulder, arm, back, neck, or jaw.  More...
21 Apr 2016
Image: The ability of cancer cells to move and spread depends on actin-rich core structures such as the podosomes (yellow) shown here in melanoma cells. Cell nuclei (blue), actin (red), and an actin regulator (green) are also shown (Photo courtesy of Julio C. Valencia and Daniel Mietchken, and Wikimedia).

Association Found Between MC1R Variant and Melanoma Risk

A new study finds that melanocortin-1 receptor is a risk factor for melanoma independent of sun exposure, supporting recent mouse model research that showed a UV radiation-independent pathway for development of melanoma and highlighting the importance of the genetic background of the host.  More...
12 Apr 2016
Image: Schematic diagram of a transrectal prostate biopsy (Photo courtesy National Cancer Institute).

Prostate Needle Biopsy Biomarker Predicts Tumor Aggressiveness

A new study demonstrates the ability to measure and evaluate biomarkers from ribonucleic acid expression data obtained from prostate needle biopsies. The data demonstrate a high concordance in the genomic signatures between needle biopsy samples and post-prostatectomy tissue samples.   More...
11 Apr 2016
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