Prostate cancer is the fourth most commonly occurring cancer world-wide, the second most affecting men, and second-leading cancer -related cause of death in men in the United States. Studies have shown that family history with prostate s cancer is a major risk factor, but only few genes such as BRCA2 and HOXB13 have been linked to prostate cancer risk due to the genetic heterogeneity challenges in this type of cancer. With the cost of DNA sequencing rapidly decreasing, analysis of exome and genome data is becoming a powerful approach for predicting the risk and diagnosing prostate cancer at early stages , or when even lacking symptoms. In the clinical cancer risk assessment setting, novel pathway- based approaches for identifying at-risk individuals are greatly needed.
Summary of the Invention
Researchers at Fox Chase Cancer Center developed a method for identifying novel prostate cancer risk markers that can be subsequently used to assess the likelihood of having or developing prostate cancer in individuals who do not have mutations that are commonly associated with the risk of prostate cancer. The method involves screening of primary cells obtained from a subject for 1) presence of germline sequence alterations, and 2) presence of associated dysfunction due to sequence alteration(s). The genetic alterations may encode functionally -impaired truncated proteins or unaltered size -wise forms of the proteins that lack functionality. The genes may encode a protein from one or more of a DNA damage repair pathway or an androgen receptor signaling pathway, or proteins that are peripheral to those two pathways. These new biomarkers have not been known for association with prostate cancer risk.
Nicolas E. at all. , “ Systematic evaluation of underlying defects in DNA repair as an approach to case -only assessment of familial prostate cancer”, Oncotarget 2015, 6(37): 39614- 33. doi: 10.18632/oncotarget.5554 http s://www.ncbi.nlm.nih.gov/pubmed/26485759
- Novel biomarkers for predicting and diagnosing prostate cancer
- New method involving cost -effective exome and genome sequencing
International Patent Publication WO 2017/049023 A1; several patents pending
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