What Are the Implications of Testing Positive for a Mutation?
Testing positive for a mutation associated with an autosomal dominant cancer syndrome has several important implications:
- Increased Surveillance: Individuals may need to undergo more frequent and earlier cancer screenings. - Preventive Measures: Options such as prophylactic surgeries (e.g., mastectomy, oophorectomy) and chemoprevention may be considered. - Family Planning: Knowledge of one's genetic status can inform decisions about having children and may lead to testing of other family members. - Psychosocial Impact: The results can have emotional and psychological effects, necessitating support from healthcare providers and genetic counselors.
