Novel Diagnostic Method for Predisposition to Colorectal Cancer

(FCCC Ref. No. 312-GE)


One person in 18 currently develops colorectal cancer in the U.S. About a third of these cancers arise within families that are predisposed to the disease. Thus, about 4 to 5 million individuals are at risk for Familial Colorectal Cancer (FCRC), which is characterized by early disease onset and/or occurrence of CRC in multiple family members. Despite identification of some high profile FCRC syndromes, the molecular causes for most FCRC have remained unknown, and most at risk individuals are not identifiable. The standard of care at the moment is for individuals with a notable family history to undergo early and more frequent colon cancer screening by colonoscopy. This is an expensive, labor-intensive effort for the individuals and their health plans. Many patients who are not actually at risk undergo intensive screening. Moreover, many other individuals at high risk but without classic family histories go unrecognized and are not screened, resulting in early onset CRC, a growing problem in the U.S. Thus, there is an urgent need to improve prediction for inherited CRC risk.


Scientists from Fox Chase Cancer Center assayed peripheral blood lymphocytes for biomarkers associated with CRC. Whole-exome sequencing of lymphocytes from FCRC patients showed an excess of variants in pathways that maintain genome stability such as DNA replication, DNA repair and checkpoint proteins. Specific antibody-based tests showed altered levels of major DNA damage-sensing proteins and elevated levels of the DNA double strand break marker Gamma-H2AX in the lymphocytes. These findings provide the basis for a simple screening test for inherited predisposition to colorectal cancer using assays of peripheral lymphocytes.


• Simple and easy to perform blood test for predisposition and detection of CRC
• Reliable test based on a cell stain, with options for confirmatory assays
• Prognostic that would guide the timing of colonoscopy and chemo-preventive interventions, allowing the patients’ care to be planned years in advance

IP Status: US Patent No. 9,157,124 issued Oct 13, 2015. Additional patent applications are pending.

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