What are the Implications of Detecting Germline Mutations?
Detecting germline mutations has several implications:
- Risk Assessment: Knowing that an individual carries a germline mutation allows for a more accurate assessment of their cancer risk. - Surveillance and Prevention: Carriers of germline mutations may benefit from enhanced surveillance, such as more frequent mammograms or colonoscopies. Preventive measures, such as prophylactic surgeries, may also be considered. - Family Planning: Genetic information can inform family planning decisions, including the use of preimplantation genetic diagnosis (PGD) to prevent passing the mutation to offspring. - Targeted Therapies: Some cancers associated with germline mutations may be more responsive to targeted therapies, such as PARP inhibitors for BRCA-mutated cancers.
