Disease-causing mutation

A change in the DNA sequence of a gene that causes a person to have or be at risk of developing a certain genetic disorder or disease, such as cancer. Disease-causing mutations can be inherited from a parent or occur during a person’s lifetime. Knowing if a person has a disease-causing mutation may help prevent, diagnose, and treat diseases, such as 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.

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