| umls-concept:C0085390 | skos:definition | MSH: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.,NCI: A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene.,CSP: rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites; a point mutation of the p53 tumor suppressor gene apparently predisposes family members who inherit it to develop certain cancers including early breast carcinoma; associated with soft tissue sarcomas and other tumors.,NCI: An autosomal dominant hereditary neoplastic syndrome caused by an alteration in the p53 tumor | lld:umls |
