Disease-causing mutation

{
  "id": "MLC-T-ONC-002491",
  "term": "Disease-causing mutation",
  "field": "Oncology and biomedicine",
  "definitions": [
    "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.",
    "A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain. Also called deleterious mutation, pathogenic variant, predisposing mutation, and susceptibility gene mutation."
  ],
  "synonyms": [
    "deleterious mutation",
    "pathogenic variant",
    "predisposing mutation",
    "susceptibility gene mutation"
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/disease-causing-mutation/"
}