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 analysis.
¶ Pathogenic and likely pathogenic variants are treated the same for purposes of surveillance and risk-reduction interventions; these interventions are independent of family history.
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).
◊ Cancers frequently associated with Peutz-Jeghers syndrome include gastrointestinal cancers (eg, colorectal, small intestine, stomach, pancreas) and extraintestinal cancers (eg, breast, ovary, cervix, testicular tumors). Refer to UpToDate for the age at which interventions are initiated, the frequency at which they are performed, and the evidence to support these interventions.
§ Refer to related UTD content for additional information.¥ Peutz-Jeghers-type hamartomatous polyps of the gastrointestinal tract, or mucocutaneous hyperpigmentation of the mouth, lips, nose, eyes, genitalia, or fingers.
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