Algorithm for a germline Lynch syndrome genetic test result in a person without cancer

This algorithm is only intended for individuals without a personal diagnosis of cancer. Interpretations of pathogenicity may be revised as more data become available. It is especially important to seek this updated information periodically for a VUS. Discussion with a genetic counselor and/or an expert in hereditary syndromes is likely to be appropriate for most individuals with a pathogenic or likely pathogenic variant in a Lynch syndrome gene and/or a strong family history of Lynch syndrome cancers.

VUS: variant of uncertain significance; rrBSO: risk-reducing bilateral salpingo-oophorectomy.

* 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 VUSs 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).

◊ Lynch syndrome cancers include colorectal, endometrial, ovarian, urinary tract, gastric and small bowel, hepatobiliary and pancreatic, brain, and skin. Refer to UpToDate for the age at which interventions are initiated, the frequency at which they are performed (eg, delay of rrBSO until after childbearing), and the evidence to support these interventions.

Graphic 122845 Version 6.0

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Algorithm for a germline Lynch syndrome genetic test result in a person without cancer