MLchartDataset catalogue

deleterious mutation

Term · Oncology and biomedicine · MLC-T-ONC-002345

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

  2. 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 disease-causing mutation, pathogenic variant, predisposing mutation, and susceptibility gene mutation.

Table 1. Record
IdentifierMLC-T-ONC-002345
FieldOncology and biomedicine
Synonymsdisease-causing mutation; pathogenic variant; predisposing mutation; susceptibility gene mutation
ReferencesNCI Dictionary of Cancer Terms; NCI Dictionary of Genetics Terms
Record as JSON
{
  "id": "MLC-T-ONC-002345",
  "term": "deleterious 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. Deleterious mutations can be inherited from a parent or occur during a person’s lifetime. Knowing if a person has a deleterious mutation may help prevent, diagnose, and treat diseases, such as cancer. Not everyone who has a deleterious mutation will develop the disease. Also called disease-causing 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 disease-causing mutation, pathogenic variant, predisposing mutation, and susceptibility gene mutation."
  ],
  "synonyms": [
    "disease-causing 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/deleterious-mutation/"
}

Record 5,790 of 17,721 in Oncology and biomedicine terminology (MLC-0111). Request the full dataset.