Monogenic Risk

Monogenic risk estimates the risk of getting a condition from rare variants in a single gene that has a strong impact on developing that condition. For example, certain variants in the BRCA1 gene raise a woman's lifetime risk of getting breast cancer to more than 50% if she does not seek medical help.

If the single variant has an autosomal dominant pattern of inheritance, this means a person has a 50% chance of passing the variant on to a child. Genetics tests have traditionally been used to assess the risks due to these rare variants in one gene, but it's more common for diseases to be caused by millions of variants in several genes rather than in just one.

The eMERGE study doesn't test children for monogenic risk. Only adults receive results for this type of risk.

The study tests for monogenic variants in these 16 genes:

  • BRCA1.
  • BRCA2.
  • PALB2.
  • PTEN.
  • TP53.
  • MLH1.
  • MSH2.
  • MSH6.
  • STK11.
  • EPCAM.
  • PMS2.
  • APOB.
  • LDLR.
  • LDLRAP1.
  • PCSK9.
  • LMNA.

The study provides participants with monogenic results for the following conditions:

  • Atrial fibrillation.
  • Breast cancer in participants whose sex at birth is female.
  • Colorectal cancer.
  • Coronary heart disease.
  • Hypercholesterolemia.
  • Prostate cancer in participants whose sex at birth is male.