Trovagene Inc, San Diego, introduces the cell-free BRAF test, a urine test for cancer mutation monitoring through the company’s CLIA laboratory, the first such urine test, according to the company.
The ultra-sensitive assay procedure has been demonstrated for detection of the BRAF V600E mutation from cell-free DNA in urine. This mutation commonly occurs in melanoma, as well as several other prevalent cancer types.
“Traditionally, the mutation status of a tumor is determined using a tissue sample – a method that has limited practicality for patient monitoring due to costs, tumor heterogeneity, and potential complications from the biopsy process,” says Mark Erlander, PhD, chief scientific officer. “The ability to detect the mutation signal in cell-free DNA isolated from urine overcomes this limitation and meets a significant technical and clinical need.”
Of the more than 70,000 cases of melanoma diagnosed each year in the United States, up to 70% harbor a BRAF-type mutation and of these, 80% may be positive specifically for BRAF V600E.1
There are several FDA-approved targeted therapies for the treatment of BRAF-positive melanoma, making mutational status monitoring an area of clinical interest among treating physicians.
It is a laboratory-developed test (LDT) designed to detect and monitor this mutation in metastatic cancer patients with biopsy-proven V600E BRAF mutation in their tumor, and the first commercial assay within the company’s cancer-monitoring portfolio performed using a droplet digital PCR (ddPCR) platform.
Using urine as a noninvasive, systemic sample, the test could help physicians monitor changes in mutation status for patients requiring therapy for cancers that have this mutation. For patients with difficult-to-biopsy metastatic tumors, urine-based mutation testing may also provide a viable alternative to check mutation status as part of the initial treatment workup.
The cell-free BRAF mutation assay has been tested across a range of solid tumors including melanoma, non-small cell lung, rectal, and colon cancers, indicating that urine-based mutation detection is applicable across many cancer types. Additional clinical studies are ongoing to further understand the full range of clinical applications for this and other Trovagene assays.
1. Vultur A, Villanueva J, Herlyn M. Targeting BRAF in advanced melanoma: a first step toward manageable disease. Clin Cancer Res 2011; 17(7):1658-63
[Source: Trovagene]
