Oncological disease, popularly known as cancer, is currently one of the most common diseases of affluence. Tumours arise from the uncontrolled proliferation of cells, which occurs randomly or as a result of an inherited mutation in a specific gene. According to the characteristics of the tumour and the prognosis of the disease, we distinguish between benign and malignant tumours, which are 10-15% hereditary. The most common cancers include breast and ovarian cancer, prostate cancer, colon cancer, pancreatic cancer, thyroid cancer and various types of leukaemia.
The hereditary disposition to cancer is inherited through mutations in important genes. There are a number of hereditary cancer syndromes (about 200). The most common are hereditary breast and ovarian cancer, hereditary colon cancer and hereditary prostate cancer, and then other lesser-known syndromes.
The purpose of genetic testing is to determine the level of risk of cancer. The result is used to set appropriate prevention and optimal treatment. If a risk variant is detected, preventive monitoring and predictive testing in the family is recommended as part of the genetic consultation. Cancer predisposition testing is for people after the age of 18 (exceptionally earlier). For people with a mutation at risk, it is possible to perform preimplementation diagnostics as part of the IVF and select a suitable embryo to prevent transmission of the mutation to the next generation.