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