Stephen B. Baylin, M.D.
Johns Hopkins University
NIEHS Grant R01ES011858
In work funded in part by the NIEHS, researchers identified epigenetic modifications in BNC1 and ADAMTS1 genes that were detectable in people with early-stage pancreatic cancer but not in cancer-free people. The findings from this small preliminary study point to the possibility of a blood test that might detect early-stage pancreatic cancer. Pancreatic cancer is almost always fatal because it isn't usually discovered until it has spread.
The researchers used methylation-on-beads technology, a recently developed approach that uses nanotechnology to capture and analyze very small amounts of DNA. Using this method, they detected methylation changes in DNA circulating in 42 serum samples from patients with pancreatic cancer. For the BNC1 gene promoter, the researchers achieved a sensitivity of 79 percent and a specificity of 89 percent, and for the ADAMTS1 gene the sensitivity was 48 percent and specificity was 92 percent. When using both markers, the approach achieved an overall sensitivity of 81 percent [95 percent confidence interval (CI), 69-93 percent] and specificity of 85 percent (95 percent CI, 71-99 percent).
The researchers say that although larger studies are needed, their findings strongly suggest that BNC1 and ADAMTS1 promoter methylation could be used as biomarkers for identifying individuals at risk for pancreatic cancer.
Citation: Yi JM, Guzzetta AA, Bailey VJ, Downing SR, Van Neste L, Chiappinelli KB, Keeley BP, Stark A, Herrera A, Wolfgang C, Pappou EP, Iacobuzio-Donahue CA, Goggins MG, Herman JG, Wang TH, Baylin SB, Ahuja N. 2013. Novel methylation biomarker panel for the early detection of pancreatic cancer. Clin Cancer Res 19(23):6544-6555.