pathogenic germline variant(English)
- a permanent, disease-causing DNA change inherited from a parent through egg or sperm cells. Found in every cell of the body, these genetic alterations—such as mutations in BRCA1 or BRCA2—significantly increase the lifetime risk of developing inherited conditions like cancer
- BRCA1, BRCA2, FHPC, PRECEDE
- Genetics, Diagnostics
- https://doi.org…598-021-91971-0
- https://doi.org…jnccn.2023.7097