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  • An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene or CHEK2 gene. It is characterized by the development of malignant neoplasms at various anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, astrocytic tumors, medulloblastoma, osteosarcoma, soft tissue sarcoma, leukemia, and non-Hodgkin lymphoma.
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