Life Sciences

Life Sciences

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



Ref.-Nr. 4571


Breast cancer is the most common type of cancer of women in industrial countries, accounting for fifteen percent of cancer-related deaths. Early detection of breast cancer, most favorably in a pre-cancerous (in situ) state is critical for the course of the disease and its outcome.

Currently, mammography screening is the standard method of medical prevention. However, the compliance among women invited for mammography is low and varies from 20 to 89 percent depending on country and age group. Similar to colorectal cancer prevention by coloscopy, a much easier and less stressful examination method might find stronger compliance.

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. 

Keywords: Genmarker, Methylierung, Brustkrebs, Früherkennung, Gene marker, methylation, breast cancer, early detection, blood sample, blood based test, liquid biopsy, test, mammography Screening, biomarker, breast cancer detection

Commercial Opportunities

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, suggesting a good chance of the present test also to be approved in a similar setting. Notably, 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.

Current Status                                                                                                       

In case of interest we are pleased to inform you about the patent status. In November 2016 the inventors were awarded the first prize at PerMediCon, the international event for personalized medicine (Cologne), for this innovative and application-oriented Invention.

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