Test for P53 Mutations to Aid Biotech Researchers and Drug Developers

A biotech services company in the United Kingdom has launched an in-house service that utilizes a next generation sequencing test to identify mutations in the P53 tumor suppressor gene.

Cancer cells typically contain two types of mutations: mutations that cause uncontrolled growth and multiplication of cells, and other mutations that block the normal defenses that protect against unnatural growth. The P53 gene is in this second category and mutations in this gene contribute to about half of the cases of human cancer. In these mutants normal p53 protein function is blocked, and the protein is unable to stop multiplication of the damaged cell. If the cell has other mutations that cause uncontrolled growth, it will develop into a tumor.


To aid biotech researchers and drug developers by facilitating studies involving P53 mutations the Almac Group (Craigavon, UK) has launched a [US] Food and Drugs Administration CLIA (Clinical Laboratory Improvement Amendments)-validated next generation sequencing test for P53 mutations.

The test, which can be run on formalin fixed paraffin embedded (FFPE) specimens, was developed using Illumina (Little Chesterford, United Kingdom) next generation sequencing technology. The test covers all coding regions and upstream regulatory regions of P53 and provides detail on specified mutations as well as a significant amount of sequence data that allows the potential discovery of other clinically relevant mutations.

The test will be performed in Almac’s CLIA certified and CAP (College of American Pathologists) accredited clinical testing laboratory and is available now for general use. The test was specifically developed to support early phase trial enrichment studies and can be run with a one week turnaround time where required.

Prof. Paul Harkin, president of Almac’s diagnostic business unit, said, “We have developed and launched this test as a response to an obvious customer demand. P53 is an important oncogene that is linked to many cancers and there are a significant number of new therapies in the pharma pipeline for which P53 is being used as a biomarker. Next generation sequencing was an ideal approach for an assay of this complexity, and the Illumina technology is an excellent platform on which to deliver such a test.”

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Almac Group
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