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Multiple Institutions, Labs Collaborating on Registry to Study Rare Hereditary Cancer Genes

NEW YORK (GenomeWeb) – Memorial Sloan Kettering along with other academic research institutions and testing labs said they will launch a registry to collect the genomic and outcomes data of patients who have consented to prospective follow up after being tested with a multi-gene hereditary cancer panel test.

By creating this so-called "Prospective Registry of Multiplex Testing" (PROMPT), researchers are hoping to create an infrastructure for the storage and curation of seldom studied gene variants that are increasingly detected by advanced genetic testing panels. The principal investigators of this study are Mark Robson at MSKCC; Susan Domchek at the Abramson Cancer Center of the University of Pennsylvania; Fergus Couch at Mayo Clinic; and Kenneth Offit at MSKCC.

Researchers will also work with a number of labs marketing hereditary cancer panels, such as Myriad Genetics and Ambry Genetics, in the project.

"The genes of focus in this study are the less-studied genes that are now appearing on pan-cancer panels,” said Myriad spokesperson Ron Rogers. “Some, but not all, of these are considered to be of moderate penetrance [in the population]. The goal is to assist in more complete characterization of penetrance.”

The participating labs will help identify patients with mutations in these genes of interest so researchers can follow them prospectively, test family members, and conduct gene-association studies to gauge how the markers are linked to long-term cancer risk. Only patients who provide informed consent will be enrolled in the study. The researchers also will launch a website through which patients can enroll themselves in the near future, Rick Wenstrup, chief medical officer at Myriad Genetics Laboratories, told GenomeWeb Daily News.

Once the registry is up and running, Wenstrup said that the data will likely be accessible to other researchers, not just the investigators and institutions leading the effort.

The growing availability and use of hereditary cancer panels has increased uncertainty among healthcare providers, particularly with regard to variants of unknown significance – genetic markers with unclear links to cancer.

As Clinical Sequencing News reported last week, recent studies of multi-gene panels used for various patient groups — including those offered by Myriad, Ambry, InVitae, and others — suggest the panels increase the diagnostic yield by about 10 percent over more targeted tests. However, no clinical guidelines exist for many of the genes included in the panels, and the rate of variants of unknown significance is currently high.

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