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Promise and Progress - Gene-Based Blood Tests Detect Advanced and Early Cancers

Reprogramming Cancer Cells - The Story of Epigenetics
Issue No. 1

Gene-Based Blood Tests Detect Advanced and Early Cancers

Date: July 16, 2014


Gene-Based Blood Tests Detect Advanced and Early Cancers

Science Translational Medicine, February 2014

The Kimmel Cancer Center scientists who used their cancer gene discoveries to develop simple, inexpensive tests to noninvasively screen for cancers and monitor treatment response and progression, have proved these tests can even detect early-stage cancers. 

An international study, led by Ludwig Center investigators Luis Diaz, M.D., and Chetan Bettegowda, M.D., Ph.D., analyzed blood samples from 640 patients with a variety of cancers and was successful in isolating circulating tumor DNA—molecular evidence of cancer—in an average of 75 percent of patients with advanced cancers and 50 percent of those with early-stage cancers.  The findings in early stage cancers are significant as detecting early cancer is more challenging because earlier, smaller cancers shed less DNA into the bloodstream.  Early cancers are considered curable cancers, so the ability to detect them via the blood test is seen as a major advance. 

The cancers the test successfully detected included advanced ovarian, colorectal, bladder, gastrointestinal, pancreatic, breast, liver, head and neck, and melanoma skin cancers.  The test also detected about half or more of early-stage cancers, ranging from a high of 73 percent for colorectal cancer to a low of 48 percent of pancreatic cancers.  Early stage esophageal (57 percent) and breast cancers (50 percent) also were detected.  Medulloblastoma brain cancer, glioma brain cancer, and advanced cancers of the kidney, prostate, and thyroid proved most difficult to detect using the blood test.

Dr. Diaz, director of the Swim Across America Laboratory, and team also found that the blood tests provided an accurate genetic profile of tumors, revealing alterations that could be targeted with treatment and those that could lead to treatment resistance.

The research was funded by the Lustgarten Foundation for Pancreatic Cancer Research, the Conrad N. Hilton Foundation, the Commonwealth Foundation, Swim Across America, a Burroughs Wellcome Fund Career Award for Medical Scientists, the Johns Hopkins Clinician Scientist Career Development Award, a Brain Science Institute Brain Science Translational Research grant, a Pediatric Brain Tumor Foundation Award, the Virginia and D.K. Ludwig Fund for Cancer Research, the National Institutes of Health, the European Commission’s Seventh Framework Programme, the Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, an American Association for Cancer Research grant, the Ballanger Charitable Trust, the Flight Attendant Medical Research Institute, the Victorian Cancer Agency, the Sao Paulo Research Foundation, the Michael Rolfe Pancreatic Cancer Foundation, Dennis Troper and Susan Wojcicki, the Sol Goldman Pancreatic Cancer Research Center, and AIRC IG grants.

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