penetrance

{
  "id": "MLC-T-ONC-006475",
  "term": "penetrance",
  "field": "Oncology and biomedicine",
  "definitions": [
    "Describes how likely it is that a person who has a certain disease-causing mutation (change) in a gene will show signs and symptoms of the disease. Not everyone who has the mutation will develop the disease. For example, some people who have a BRCA1 or BRCA2 gene mutation will develop cancer during their lifetime, but others will not. Currently, there is no way to know which people who have a cancer-causing mutation will develop cancer. Complete penetrance means that every person who has the mutation will show signs and symptoms of the disease.",
    "Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. For adult-onset diseases, penetrance is usually described by the individual carrier's age, sex, and organ site. For example, the penetrance for breast cancer in female carriers of BRCA1 pathogenic variants is often quoted by age 50 years and by age 70 years."
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/penetrance/"
}