Disease-causing mutation
| Disease-causing mutation | |
|---|---|
| Term | Disease-causing mutation |
| Short definition | disease-causing mutation - (pronounced) (dih-ZEEZ-KAW-sing myoo-TAY-shun) change in the DNA sequence of a gene that causes a person to have a specific genetic disorder or disease, such as B. cancer, has or is at risk of developing it. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
disease-causing mutation - (pronounced) (dih-ZEEZ-KAW-sing myoo-TAY-shun) change in the DNA sequence of a gene that causes a person to have a specific genetic disorder or disease, such as B. cancer, has or is at risk of developing it. Disease-causing mutations can be inherited from a parent or can occur over the course of a person's life. Knowing if a person has a disease-causing mutation can help prevent, diagnose, and treat diseases like cancer. Not everyone who has a disease-causing mutation will develop the disease. Also called deleterious mutation, pathogenic variant, predisposing mutation, and susceptibility gene mutation
External links
- Medical encyclopedia article on Disease-causing mutation
- Wikipedia's article - Disease-causing mutation
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