Diagnostics of hereditary malignancies

Summary: Significant advances have occurred in our understanding of the cancer etiology in the last decade, as a consequence of the generalized use of molecular biology techniques in human genetics. Cancer is a form of a complex genetic disease. Most forms of cancer are characterised by the accumulation of different genetic alterations affecting genes from a set of genes with pathogenic potential, which is specific for each tumour entity. While in the majority of malignant tumours these changes are somatically acquired, some mutations are transmitted through the germline and account for an inherited tumour predisposition. The next frontier in cancer genetics is to find genes with high prevalence alleles conferring a low increase or decrease of cancer risk.