loading...| Preferred Name |
Li-Fraumeni syndrome |
|
| Synonyms |
Li-Fraumeni Familiar Cancer Susceptibility Syndrome |
|
| Definitions |
An autosomal dominant hereditary neoplastic syndrome caused by an alteration in the p53 tumor suppressor gene. It is characterized by the development of malignant neoplasms at various anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include adrenal cortex carcinoma, astrocytic tumors, colorectal carcinoma, gastric carcinoma, malignant breast neoplasms, medulloblastoma, osteosarcoma, and soft tissue sarcomas. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3476" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3476" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000042844 |
|
| altLabel |
Li-Fraumeni Familiar Cancer Susceptibility Syndrome LFS Li Fraumeni Syndrome |
|
| Associated disease |
http://purl.bioontology.org/ontology/PDQ/CDR0000042076 http://purl.bioontology.org/ontology/PDQ/CDR0000042800 http://purl.bioontology.org/ontology/PDQ/CDR0000038962 http://purl.bioontology.org/ontology/PDQ/CDR0000038758 http://purl.bioontology.org/ontology/PDQ/CDR0000039836 http://purl.bioontology.org/ontology/PDQ/CDR0000038825 http://purl.bioontology.org/ontology/PDQ/CDR0000038832 http://purl.bioontology.org/ontology/PDQ/CDR0000040252 http://purl.bioontology.org/ontology/PDQ/CDR0000043274 http://purl.bioontology.org/ontology/PDQ/CDR0000041186 http://purl.bioontology.org/ontology/PDQ/CDR0000041729 http://purl.bioontology.org/ontology/PDQ/CDR0000038957 http://purl.bioontology.org/ontology/PDQ/CDR0000040209 http://purl.bioontology.org/ontology/PDQ/CDR0000043673 |
|
| cui |
C0085390 |
|
| Date last modified |
2010-02-10 |
|
| definition |
An autosomal dominant hereditary neoplastic syndrome caused by an alteration in the p53 tumor suppressor gene. It is characterized by the development of malignant neoplasms at various anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include adrenal cortex carcinoma, astrocytic tumors, colorectal carcinoma, gastric carcinoma, malignant breast neoplasms, medulloblastoma, osteosarcoma, and soft tissue sarcomas. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3476" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3476" NCI Thesaurus) |
|
| Legacy PDQ ID |
6649 |
|
| NCI ID |
C3476 |
|
| notation |
CDR0000042844 |
|
| ORIG STY |
Genetic condition |
|
| prefLabel |
Li-Fraumeni syndrome |
|
| tui |
T047 |
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| subClassOf |