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. 2021 Jul 9;12(4):577–592. doi: 10.1007/s12687-021-00536-1

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)