DBpedia – Linked Data Fragments

Matches in DBpedia 2015-10 for { ?s ?p "Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the Sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.The syndrome is linked to germline mutations of the TP53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from de novo mutations early in embryogenesis, or in one of the parent's germ cells."@en }

• Li–Fraumeni_syndrome abstract "Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the Sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.The syndrome is linked to germline mutations of the TP53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from de novo mutations early in embryogenesis, or in one of the parent's germ cells.".