Ambry participates in PROMPT (Prospective Registry of MultiPlex Testing), a multi-site collaborative study that aims to better understand the clinical significance of mutations and variants of unknown significance (VUS) in hereditary cancer genes.

PROMPT is an online registry for patients that have had testing for cancer-causing genetic mutations. PROMPT's goal is to recruit those with specific genetic changes into ongoing, future research efforts needed to define the clinical significance of these mutations and variants of unknown significance (VUS). Physicians and scientists at the Abramson Cancer Center of the University of Pennsylvania, the Mayo Clinic, Dana-Farber Cancer Institute, and Memorial Sloan Kettering Cancer Center are leading the study. PatientCrossroads is hosting the online registry.

PROMPT Study Information for Patients

Ambry Genetics will provide information about PROMPT along with test results for patients that have hereditary multiplex panel testing, and have either a pathogenic mutation or VUS identified.

The aims of the PROMPT registry include:

  • Define penetrance and genotype-phenotype associations
  • Collaboration with ENIGMA (Network for the Interpretation of Germline Mutant Alleles) for variant assessment and data sharing
  • Define clinical or pathologic tumor-specific correlations

Mutation and VUS data from PROMPT will subsequently be incorporated into larger datasets through ClinVar, which is the NCBI’s premier public database of genetic variants and ENIGMA, the leading international consortium dedicated to studying and understanding the clinical significance of VUS in breast and ovarian cancer susceptibility genes.

In future phases, we are committed to helping PROMPT with variant segregation and any additional contributions we can make to further the research process.

Beyond patient-driven contributions via PROMPT, we are a participating member with ENIGMA.  We contribute phenotypic and genotypic data directly to ENIGMA for patients undergoing hereditary cancer panel testing for hereditary breast and ovarian cancer syndromes, including those with positive, VUS, and negative results.

For questions about clinical research or collaborations at Ambry, please fill out the form found here and select ‘Answer a Question about Research and Collaboration Services’.