Hereditary Tumor Diseases
In the "German Hereditary Non-Polyposis Colorectal Cancer Consortium" and the "German Hereditary Breast and Ovarian Cancer Consortium", both initiated and funded by the German Cancer Aid (Deutsche Krebshilfe), interdisciplinary university centers provide comprehensive medical care to families with hereditary clustering of cancer. In these two projects, the IMISE is responsible for central electronic documentation and biometric analyses of scientific data.
In some tumor patients, familial clustering of cancers can be observed, which led to the early hypothesis of a genetic basis for cancer development in these cases. It is assumed that malignant tumors develop in a stepwise process of tumor initiation and progression. Pathogenic mutations of genes which regulate cell growth (protooncogenes and tumor supressor genes) play a crucial role here. Such DNA mutations emerge spontaneously but can be repaired within certain limits by specific enzymes. If the genes of these repair enzymes themselves are affected by a deleterious mutation and thus loose their function, the probability of developing cancer is highly increased (genetic tumor disposition).
It has been known for some years that there exists a causal relationship between germline mutations in these repair genes and familial clustering of cancer, particularly for colorectal and breast cancer. Breast cancer is the most frequent cancer in women, colorectal cancer is the second frequent tumor entity in Germany. It has been estimated that about 5-10% of these cancers develop on the basis of such a hereditary disposition.
Successful therapy of tumors highly depends on their early detection during preventive examinations. The identification and medical care of patients from families with tumor disposition syndromes is an interdisciplinary challenge. Therefore, the German Cancer Aid (Deutsche Krebshilfe) has initiated two large interdisciplinary multicenter projects, "Hereditary Non-Polyposis Colorectal Cancer" and "Hereditary Breast and Ovarian Cancer", in order to give comprehensive genetic advice to patients from affected families, to offer genetic diagnostic if whished and to conduct intensified preventive examinations. In additon, scientific data is collected and analysed in order to improve existing standards of diagnostics and prevention.
In both projects, the IMISE provides all necessary infrastructure for the collection of scientific data in the clinical centers: documentation concepts, central databases, electronic data capture applications, data and quality management. Further responsibilities of the IMISE concern biometric data analyses together with the cooperating scientists of the projects.
Leader of the project group
- Jan Schäfer, WG Databases for clinical trials 1
- Ronald Speer, WG Telematics and data protection
- Prof. Dr. Klaus-Georg Deck, Berufsakademie Mosbach
- Documentation, biometry and telematics in the German (HNPCC) Consortium
- Documentation, biometry and telematics in the German Hereditary Breast Cancer Consortium