Interpretation of germline genetic testing for SMAD4 gene

Interpretation of germline genetic testing for SMAD4 gene

This algorithm is only intended for individuals without a personal diagnosis of cancer. Interpretations of pathogenicity may be revised as more data become available. Discussion with a genetic counselor and/or an expert in hereditary cancer and/or HHT syndromes is likely to be appropriate for most individuals with a pathogenic or likely pathogenic variant in the SMAD4 gene and/or a strong family history of juvenile polyposis syndrome-associated cancers or clinical findings of HHT such as telangiectasia. Refer to other UpToDate content for additional details, including the starting age and frequency of interventions and screening.

HHT: hereditary hemorrhagic telangiectasia; 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).
◊ All symptoms attributable to telangiectasia, arteriovenous malformations, or bleeding should be thoroughly evaluated. Decisions regarding screening of asymptomatic individuals, including the specific tests and age at which to initiate them, are best done in consultation with an HHT center and/or facilitated by a clinician with expertise in HHT management.
§ Multiple hamartomatous polyps in the gastrointestinal tract or a family history of hamartomatous polyps.

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Interpretation of germline genetic testing for SMAD4 gene