Info
Germline vs. somatic mutation
Diagnosis
What it means
A germline mutation is present in all the cells of the body and can be inherited from a parent or passed on to children (for example BRCA1/BRCA2). A somatic mutation appears only in the tumor cells, is not hereditary and is not passed on to children.
Related terms
The terms below often appear alongside this one. Each definition is right here, so you do not have to look elsewhere.
- BRCA1 / BRCA2
- Genes that, in their normal form, help repair damaged DNA. An inherited mutation in BRCA1 or BRCA2 significantly increases the risk of breast, ovarian, prostate and pancreatic cancer, and can guide decisions about intensive screening or treatment (for example PARP inhibitors).
- AFP (alpha-fetoprotein)
- A tumor marker useful especially for liver cancer and certain testicular or ovarian tumors. It is measured in the blood for diagnosis, monitoring treatment and detecting a recurrence.
- ALK-positive
- A gene rearrangement found in a subset of lung cancers, more common in non-smoking or younger patients. ALK-positive tumors often respond very well to specific targeted therapies, different from standard chemotherapy.
Other terms in “Diagnosis”
Glossary definitions are written for patients by the OncoDots team and go through internal medical review. They explain terms; they do not establish a diagnosis and do not recommend a treatment.