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