Table 1.
Characteristics of main examples of genetic results
Breast cancer | Parkinson disease | Huntington disease | |
---|---|---|---|
Genetic mutation | Autosomal, dominant mutation BRCA1 and BRCA2 | Low penetrance, recessive, heterozygous mutations in the parkin gene (PRKN) | Autosomal, dominant mutation in the Huntingtin gene (htt). Monogenic disorder |
Risk (of developing the disease due to the mutation) | Significantly increased risk of 38–87% | Slightly increased risk (3–7%) | High risk (100%) |
Prevention possibilities |
• Regularly precautionary medical check-ups • Precautionary mastectomy • Early recognition significantly increases the chances of complete recovery • Late recognition, in which metastases have formed in other body regions prohibits complete recovery |
No preventive measures available | No preventive measures available |
Treatment possibilities |
• Surgery • Chemotherapy • Radiation • Hormone therapy |
• Treatable symptoms. Measures to increase life quality |
• Medication • Physiotherapy • Occupational therapy • Speech therapy |
Disease onset | Earlier than without mutation | Adult onset at an average age of 60 years | Adult onset between 40 and 50 years |
Cure | Sometimes possible | No cure | No cure. Premature death |
Severity of the disease | Potentially lethal | Non-lethal | Lethal (premature death after 15–18 years after onset) |