When is genetic counselling recommended for Li-Fraumeni syndrome?

Li-Fraumeni syndrome is an inherited condition that can increase the chance of several cancer types within a family. A genetics professional examines the pattern of cancers, ages at diagnosis and available medical records before discussing testing.

Counselling gives you space to consider what a result might mean for your own care and for relatives. It can also explain why a negative result may not answer every family-history question, particularly when no known family gene change has been identified.

Request a genetics referral after a clinician raises concern about Li-Fraumeni syndrome, after a relevant genetic result, or when several relatives have had early-onset cancers or different cancers associated with the condition. Gather diagnoses, ages at diagnosis and pathology information if available.

The genetics team can discuss testing an affected relative, consent, possible results and tailored surveillance. Do not arrange predictive testing for a child without specialist advice about timing and welfare.

Arrange counselling promptly when the syndrome is suspected because the result may affect screening and family planning. Contact the relevant cancer team quickly about a new lump, unexplained bleeding, persistent pain, unexplained weight change or other new symptom; urgent symptoms such as severe breathlessness, heavy bleeding or collapse need emergency care.

Ask what in the family history suggests Li-Fraumeni syndrome, whether testing should begin with an affected relative, what surveillance is appropriate now, and how results could affect relatives.