[Molecular genetic methods used in diagnosis of hereditary cancers]

The technical developments lead to revolution and speed-up of molecular genetic diagnostics of hereditary cancer syndromes. In those apparently sporadic, solid tumors where the chance of inheritance is higher than 10%, the molecular genetic analysis is indicated. Nowadays these tests are performed using next generation sequencing technologies which allow parallel testing of multiple genes. However, in well-defined cancer syndromes where the clinical presentation clearly suggests the diagnosis and the disease is monogenic, targeted testing is still recommended. Clinical indication of molecular genetic testing and its interpretation is a complex procedure; all steps are regulated. Beside ethical and legal aspects both the laboratory, bioinformatic steps and the interpretation of the results require strong supervision and control. The current review summarizes the genetic alterations responsible for hereditary cancer syndromes and molecular genetic methods which are used during diagnostics in everyday practice.