What family cancer patterns suggest Li-Fraumeni syndrome, and how is it tested?

[Anonymous]

What family cancer patterns suggest Li-Fraumeni syndrome, and how is it tested?

[Genetic Counselor]

The biggest clue to Li-Fraumeni syndrome is the pattern of cancers in a family: several relatives with cancer, cancers at unusually young ages, uncommon childhood cancers, or one person with more than one separate cancer. Doctors use published criteria to decide when TP53 testing is advised. In plain terms, testing is usually recommended when:

–A classic family pattern is present
–A person diagnosed with a sarcoma before age 45 has a parent, brother, sister, or child with any cancer before age 45, and another close relative with any cancer before age 45 or a sarcoma at any age.
–A core cancer appears young, with a similar cancer in a close relative
–A person has one of the five core cancers (breast before menopause, sarcoma, bone cancer, brain tumor, or adrenocortical carcinoma) before age 46, and a close relative had a core cancer before age 56 or had more than one cancer.
–One person has several cancers
–A person has had more than one separate cancer, two of them from the core group, with the first before age 46.
–Certain cancers appear at any age, even without a family history Adrenocortical carcinoma, choroid plexus tumor (a rare brain tumor in children), or a specific type of rhabdomyosarcoma.
–Breast cancer before age 31

This alone is reason to consider testing.

Testing is done on a blood or saliva sample. The laboratory reads the full TP53 gene and checks for missing or extra pieces. TP53 is often tested as part of a larger hereditary cancer panel that also looks at genes such as BRCA1, BRCA2, and CHEK2, which can cause overlapping family patterns.

Not every family that fits the pattern will have a TP53 change found. In that case, relatives are still considered at increased risk and should discuss screening with a genetics team.

[Author]

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