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.
