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Table 2 2015 Chompret criteria for Li-Fraumeni syndrome and germline TP53 mutation screening [36]

From: Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis

Must meet at least one criteria
1. Familial presentation
 Proband with tumor belonging to Li-Fraumeni syndrome (LFS) tumor spectrum (e.g., soft tissue sarcoma, osteosarcoma, CNS tumor, breast cancer, adrenocortical carcinoma, leukemia, bronchoalveolar lung cancer) before age 46 years AND at least one first- or second-degree relative with an above LFS tumor (except breast cancer if proband has breast cancer) before age 56 years or with multiple tumors at any age
2. Multiple primary tumors
 Proband with multiple tumors (except multiple breast tumors), two of which belong to LFS tumor spectrum and the first occurring before age 46 years
3. Rare tumors
 Patient with adrenocortical carcinoma, choroid plexus carcinoma, or rhabdomyosarcoma of embryonal anaplastic subtype, irrespective of family history
4. Early-onset breast cancer
 Breast cancer before age 31 years