Molecular pathology of cancer: how to communicate with disease

Recent technical advances have brought insights into the biology of cancer in human, establishing it as a disease driven by genetic mutations. Beside inherited family tumour syndromes caused by germline mutations, somatic genetic alterations occur early in tumourigenesis, which accumulate during the progression of the disease and its treatment. Based on these observations, medical oncology has started to enter an era of stratified medicine, where treatment selection is becoming tailored to drugable molecular pathways. As a pre-requisite of an individualised treatment concept, molecular and genetic characterisation of the individual tumour has to be performed to align the most appropriate therapies according to the patient's disease. Reading the individual molecular tumour profile and responding by a tailored treatment concept is the ‘communication’ required to fight this deadly disease. This way to communicate is currently changing the field of oncology dramatically, and fundamentally involves the discipline of molecular pathology. This review highlights the role of genetic characterisation of human malignancies by giving an overview on the basic methods of molecular pathology, the challenge of the instable tumour genome and its clinical consequences. TRIAL REGISTRATION NUMBER: EK1541/2012.