Germline CHEK2 genetic test result interpretation in an individual without cancer

VUS: variant of uncertain significance.

* Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data.

¶ Frameshift/protein truncating pathogenic and likely pathogenic variants (eg, 1100delC) are treated the same for purposes of surveillance and risk reduction interventions. Medical management should be individualized for those with a missense variant (eg, I157T) and those with a family history of cancer.

Δ VUS lack sufficient information from clinical and bench research to be classified as pathogenic or benign. Continue to seek updated interpretation of pathogenicity periodically (eg, annually).

◊ CHEK2 is associated with increased risks for breast cancer (female and male), colorectal cancer, and prostate cancer. Increased risk for other types of cancer have been reported and are difficult to quantify.