A novel risk-assessment method for colorectal cancer and prostate cancer

(FCCC Ref. No. 312-GE)


One person in 20 in the U.S. currently develops colorectal cancer. About 30% 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 Carcinoma (FCRC) which is characterized by early disease onset and/or occurrence of CRC in multiple family members. The molecular cause is unknown for about ~20-25% of FCRC. Within affected families, about half of the members are expected to be at risk, but we cannot identify them. The standard of care is for all of them to undergo early and more frequent colon cancer screening by colonoscopy. Thus, there is an urgent need of improvements in the prediction for inherited predisposition to FCRC.


Germline DNA and primary peripheral blood lymphocytes from FCRC patients were assayed and subjected to whole-exome sequencing. The patients showed germline variants in pathways that maintain genome stability such as DNA replication, DNA repair and checkpoint proteins etc. Additionally, the majority of the FCRC patients compared to age- and sex-matched cancer-free controls, exhibited elevated levels of the DNA double strand break (DSB) marker, Gamma-H2AX, in primary T-lymphocytes following treatment with low doses of DNA damaging agents, laying the basis of a screening test for inherited predisposition to cancer.

The current technology comprises a simple blood test, easy to perform, reliable, and verifiable by follow-up tests. The technology would detect a risk for tumor development and will guide the timing of colonoscopy, dietary, and chemo-preventive interventions. Thus, the patients’ care could be planned years in advance.

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

Partnering: Looking for potential licensee and/or industry collaboration partner


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