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Ambry, Academic Groups Partner to Create Hereditary Cancer Registry

NEW YORK (GenomeWeb) – Ambry Genetics and its collaborators today announced a partnership to create a hereditary cancer research registry leveraging next-generation sequencing.

Ambry and researchers from Memorial Sloan Kettering Cancer Center, Mayo Clinic, Abramson Cancer Center of the University of Pennsylvania, Dana-Farber Cancer Institute, and other diagnostic testing laboratories announced the formation of the Prospective Registry of MultiPlex Testing (PROMPT), a research registry for people have used multigene panels. Through the registry, PROMPT partners aim to learn more about the genes on the panels that are associated with an increased risk of cancer, according to PROMPT's website.

In the initial phase of the collaboration, Ambry will provide test results from patients who have undergone hereditary cancer multiplex panel testing and been found to have pathogenic mutations or variants of unknown significance (VUS). Ambry will offer these individuals research opportunities to define the clinical significance of the mutations and VUS.

In collaboration with the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), an international breast cancer research consortium, PROMPT seeks to define penetrance and genotype-phenotype associations.

"The study design is unique in that its goal is to reach thousands of mutation carriers, many of whom may never be seen at the types of academic or tertiary care centers where this type of clinical research is typically carried out," Ambry CMO Elizabeth Chao said in a statement. "This improves patient access as well as the applicability of the results to the general US population."