The course of examination
The aim of the investigation is to identify patients/families with an inherited predisposition to certain types of tumors, specify oncological risks for family members who are burdened with a history of cancer and recommend appropriate prevention in these families.
The examination always begins with a genetic consultation, during which the patients describe in detail their personal medical history and especially the family anamnesis (at least 3 generations). Information on the type of cancer, age of diagnosis and the result of histological examination is very important.
Based on the analysis of these data we will determine whether a patient or a relative should undergo molecular genetic testing - analysis of susceptibility genes. If possible, we always try to start the genetic testing with a family member with a history of cancer. The patient signs an informed consent before testing.
The patient/family is informed about the examination results and they are explained to them in the final genetic counseling. A report is transmitted at the same time which describes oncological risks and proposes preventive measures.
Possible preventive measures:
- special surveillance programs from a young age for early diagnosis of possible cancer
- preventive surgery to reduce the risk of disease
- the actual treatment of tumors must be modified in certain types of predispositions
- possibility of preimplantation genetic diagnosis to eliminate the transmission of predisposition to the next generation
Does the result of genetic testing have impact on relatives of the tested patient?
If the patient is diagnosed with innate predisposition to cancer, their relatives are offered predictive testing (tests whether they are also carriers of the specific mutation - change in the gene). The result of the test can specify the risk of cancer for them. Predictive testing is mostly carried out in adulthood, only in some cases children can be tested as well (depends on the expected age of possible symptoms of the disease).