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→Gene Overview
''Li-Fraumeni Syndrome'' - Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder that is commonly associated with germline mutations of ''TP53'' [13]. The 2009 ‘revised’ Chompret criteria for LFS are [14]: (1)
''Li-Fraumeni Syndrome'' - Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder that is commonly associated with germline mutations of ''TP53'' [13]. The 2009 ‘revised’ Chompret criteria for LFS are [14]:
1. Proband with tumor belonging to LFS tumor spectrum (e.g., soft tissue sarcoma, osteosarcoma, brain tumor, premenopausal breast cancer, adrenocortical carcinoma, leukemia, lung bronchoalveolar cancer) before age 46 years AND at least one first- or second-degree relative with LFS tumor (except breast cancer if proband has breast cancer) before age 56 years or with multiple tumors; OR
1. Proband with tumor belonging to LFS tumor spectrum (e.g., soft tissue sarcoma, osteosarcoma, brain tumor, premenopausal breast cancer, adrenocortical carcinoma, leukemia, lung bronchoalveolar cancer) before age 46 years AND at least one first- or second-degree relative with LFS tumor (except breast cancer if proband has breast cancer) before age 56 years or with multiple tumors; OR
2. Proband with multiple tumor (except multiple breast tumors), two of which belong to LFS tumor spectrum and first of which occurred before age 46 years; OR
2. Proband with multiple tumor (except multiple breast tumors), two of which belong to LFS tumor spectrum and first of which occurred before age 46 years; OR
3. Patient with adrenocortical carcinoma or choroid plexus tumor, irrespective of family history.
3. Patient with adrenocortical carcinoma or choroid plexus tumor, irrespective of family history.