Interpretation of germline genetic testing for BMPR1A gene

Interpretation of germline genetic testing for BMPR1A gene

This algorithm is only intended for individuals without a personal diagnosis of cancer or clinical features of a hamartomatous polyposis syndrome. Interpretations of pathogenicity may be revised as more data become available. 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 the BMPR1A gene and/or a strong family history of juvenile polyposis syndrome-associated cancers. Refer to other UpToDate content for additional details, including the starting age and frequency of interventions and screening.

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).
◊ Multiple hamartomatous polyps in the gastrointestinal tract or a family history of hamartomatous polyps.

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Interpretation of germline genetic testing for BMPR1A gene