Approach to an individual with suspected Li-Fraumeni syndrome or heritable TP53-related cancer syndrome

Approach to an individual with suspected Li-Fraumeni syndrome or heritable TP53-related cancer syndrome

Results should be reviewed to ensure accurate sequence data and interpretation before the implications are reviewed with the tested individual, since potential consequences of a positive or negative result are especially meaningful. Input from an expert in hereditary cancer syndromes is appropriate. Refer to UpToDate for additional discussions of the clinical features of hTP53rc, indications for testing, genetic testing caveats, and details of cancer surveillance and cancer treatment.

LFS: Li-Fraumeni syndrome; hTP53rc: heritable TP53-related cancer syndrome; ERN GENTURIS: European Reference Network on the Genetic Tumour Risk Syndromes; ALL: acute lymphoblastic leukemia.

* Associated cancers include:

Any sarcoma except Ewing sarcoma diagnosed under age 31
Breast cancer diagnosed under age 31
SHH medulloblastoma (medulloblastoma with over-activation of the sonic hedgehog pathway) diagnosed under age 31
Other LFS tumors (eg, hypodiploid ALL) diagnosed under age 31
Choroid plexus carcinoma
Adrenocortical cancer

Refer to UpToDate and/or the ERN GENTURIS guideline for more details.

¶ Attempts should be made to identify the familial variant in the proband or a family member already diagnosed with hTP53rc cancer(s). This may require full exon sequencing, full gene sequencing, or sensitive methods to detect copy number variations. Involvement of a cancer genetics professional is advised (and in the United Kingdom, required).

Δ Confirmation or exclusion of the diagnosis of hTP53rc and review of the implications for the tested individual requires input from a specialist such as a genetics professional or an expert in heritable cancer syndromes.

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Approach to an individual with suspected Li-Fraumeni syndrome or heritable TP53-related cancer syndrome