Germline ataxia-telangiectasia (ATM gene) genetic test result

Germline ataxia-telangiectasia (ATM gene) genetic test result

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 pathogenic or likely pathogenic variants in the ATM gene.

AT: ataxia-telangiectasia; ATM: ataxia-telangiectasia mutated; 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).

◊ Individuals with AT are at increased risk for cancer during childhood. The majority (85%) are lymphomas and acute leukemias. Among patients who survive to adulthood (>20 years), there also appears to be an increase in the risk of solid tumors as compared with the general population. 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 UpToDate content on ataxia-telangiectasia for additional information.

¥ Those with a single pathogenic variant in ATM (AT carriers) are at increased risk for breast cancer, pancreatic cancer, and other solid tumors in adulthood.

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Germline ataxia-telangiectasia (ATM gene) genetic test result