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Liquid biopsy based early breast cancer detection - SPAG6, NKX2-6, PER1 promoter methylation biomarker panel

12.10.2016

Researchers of the University Medical Center of Aachen have developed a blood-based diagnostic test for breast cancer and its pre-cancerous stages, based on the grade and intensity of CpG promoter methylation of early breast cancer biomarkers, i.e. the genes SPAG6, NKX2-6 and PER1 (the “SNP panel”). Combined, these three genes provide an opportunity to easily test for breast cancer, starting from a patient’s blood sample (Liquid biopsy). It is very likely that a blood-based test would increase compliance of women to participate in medical prevention of breast cancer. In addition, this concept may allow to broaden prevention to elderly women (>70 years) who currently are not invited to mammography screening. In April 2016, a blood-based early detection system for colon cancer (the Epi ProColon test by Epigenomics AG) has been approved by the FDA. The RWTH Aachen blood test could be applied in an analogous way for breast cancer detection. Both tests have similar sensitivity and specificity, which may qualify the herein presented test for approval as well. A key argument for the approval of the Epi proColon test by the FDA has been the likelhood of increased acceptance by the relevant population thus reinforcing screening participation. On behalf of the University of Aachen (RWTH Aachen), PROvendis offers a patent license as well as a research collaboration with licensing option.

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