Benutzerspezifische Werkzeuge

Future Translational Research

Problem:   Only 40% of Bethesda+ patients carry MMR deficient tumors

 Specific aim:  

      • To identify genes which cause microsatellite-stable tumors

 Project: 

      • Identification of CRC-associated genes using genomewide analysis
        of SNPsor  copy  number  variations

In cooperation with several European partners

Problem:   Identification of the mutated MMR-gene requires tumor tissue

 Specific aim: 

      • To develop a predictive test which identifies the
        mutated MMR-gene in peripheral blood leukocytes

 Project:   

      • Identification of pathogenic MMR-gene mutations in
        peripheral blood by nonsense-mediated mRNA decay

Research grant from the German Cancer Aid 2009-2010

Problem:   Age of CRC onset varies widely in carriers of MMR-gene mutations

 Specific aim: 

      • To identify modifying genetic variants to calculate individual cancer risk

 Project:  

      • Identification of genetic variants which modify age of CRC-onset
        in large homogeneous HNPCC-populations

In cooperation with the German HNPCC Consortium and European partners

Problem:   Age of CRC onset varies widely in carriers of MMR-gene mutations

 Specific aim: 

      • To identify modifying genetic variants to calculate individual cancer risk
      •   Knowledge of age of disease onset will have an impact on preventive strategies
          and
          • age at first surveillance
          • surveillance intervals
          • and age at preventive surgery

Problem:   There is little evidence for surveillance recommendations in HNPCC

 Specific aim: 

      • To evaluate efficacy of colonoscopic surveillance for polyp
        and cancer detection in HNPCC

Project:  

      • Prospective evaluation of surveillance 
        in the German HNPCC Consortium

In cooperation with the German HNPCC Consortium



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