Mutanom project

Systems biology of genetic diseases - Mutanom

Subproject: Effects of cancer gene mutations on the intracellular signalling network and transformed phenotype undefinedmore information about Mutanom

The objective of this subproject is to analyze novel mutated cancer genes a) known to occur in solid human tumors, b) to be involved in cancer-related developmental disorders and c) identified/nominated by the consortium for their contribution to transformed phenotypes and for their impact on the signalling network. The experimental strategy depends on the nature of the mutations (deletion, duplication, insertion, nonsense, splice site alteration) and on the assignment of the affected gene to a functional group based on Gene Ontology (GO)-based molecular function or biochemical process groups. Depending on the previous characterization of the mutations, functional tests are chosen to either interrogate transforming or tumor-suppressing activities. More detailed investigations that exceed the proof of transforming or transformation-suppressing activity are done in collaboration with the partners. In view of already known common mechanisms of cancer initiation and progression, it is desirable to study the impact of mutated cancer genes, regardless of their putative tumor-promoting or -limiting function, on the handful of signalling pathways with oncogenic potential. Understanding how the perturbation of the signalling network ultimately determines the malignant features of cancer cells is a prerequisite for identifying the rate-limiting steps in cancer growth and to design rational therapies. 


Supported by BMBF, NGFN Plus


Prof. Dr. rer.nat. Reinhold Schäfer
Molecular Tumor Pathology Laboratory
t: +49 30 450 536 072