Definition

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. Susceptibility gene mutations can be inherited from a parent or occur during a person’s lifetime. Knowing if a person has a susceptibility gene mutation may help prevent, diagnose, and treat diseases, such as cancer. Not everyone who has a susceptibility gene mutation will develop the disease. Also called deleterious mutation, disease-causing mutation, pathogenic variant, and predisposing mutation.