Intermediate
Technical
IVT
germline mutation
Inherited genetic alteration present in all cells that can predispose to cancer development.
Full Definition
A hereditary genetic change that occurs in reproductive cells (egg or sperm) and is therefore present in every cell of the offspring's body from birth. In gynecologic oncology, germline mutations in genes such as BRCA1, BRCA2, Lynch syndrome genes, and others significantly increase cancer risk and influence treatment decisions. Unlike somatic mutations that occur only in tumor tissue, germline mutations have implications for family members and require specialized genetic counseling and testing protocols.
Usage
Usage note: Always distinguish from somatic mutations when discussing genetic testing results.
In Context
- "Genetic testing revealed a pathogenic germline mutation in the BRCA1 gene." — Genetics consultation report
- "Patients with germline mutations require enhanced surveillance and may benefit from prophylactic surgery." — Clinical guideline
Also known as
hereditary mutation
inherited mutation
Contrasted with
somatic mutation
Don't confuse with
somatic mutation
acquired mutation