This mutation is frequently reported in several cancers (COSM10704, COSMIC; http://cancer.sanger.ac.uk/) and, as constitutive mutation, causes Li Fraumeni syndrome (ClinVar id12347; https://www.ncbi.nlm.nih.gov/clinvar/), an inherited cancer disease, characterized by autosomal dominant inheritance due to heterozygous mutations in TP53, with early onset and multiple tumors within an individual, including soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia and adrenocortical carcinoma (OMIM #151623). The gene discussed is TP53; the disease is cancer.