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Li-Fraumeni Syndrome (CUI C0085390) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0085390

NCI Thesaurus Code: C3476  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt 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.

GARD Definition: Li-Fraumeni syndrome (LFS) is an inherited condition that is characterized by an increased risk for certain types of cancer. Affected people often develop cancer at an earlier age than expected and may be diagnosed with more than one cancer during their lifetime. LFS is primarily associated with sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, leukemia and adrenocortical carcinoma; however, many other types of cancer have been reported in people with this condition. It is caused by changes (mutations) in the TP53 gene and is inherited in an autosomal dominant manner. Management may include high-risk cancer screening and/or prophylactic surgeries. - this information is from GARD/ORDR/NCATS.

PDQ 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 active clinical trials using this agent. (NCI Thesaurus)

NCI-GLOSS Definition: A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene.

CSP Definition: 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.

MSH Definition: 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.

Synonyms & Abbreviations: (see Synonym Details)
LFS
Li Fraumeni syndrome
Li-Fraumeni Familial Cancer Susceptibility Syndrome
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
Li-Fraumeni syndrome (disorder)
Li-Fraumeni Syndrome [Disease/Finding]
Li-Fraumeni syndrome

External Source Codes: 
NCI Thesaurus Code C3476 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID XUg1U SNOMEDCT_US
DATE_CREATED 2015-01-11T00:03:00 GARD
DATE_LAST_MODIFIED 2010-02-10 PDQ
DATE_LAST_MODIFIED 2015-01-11T00:03:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 4006-0058 CSP
DISEASE_IDENTIFIER_ID 29516 GARD
DX 19920101 MSH
EFFECTIVE_TIME 20080131 SNOMEDCT_US
FX D016158 MSH
HAS_GARD_PAGE true GARD
HN 92 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Synonym Added GARD
LAST_REVIEW_DATE 2009-11-12T00:00:00 GARD
MDA 19910621 MSH
MESH_DEFINITION 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. NDFRT
MESH_DUI D016864 NDFRT
MESH_NAME Li-Fraumeni Syndrome NDFRT
MESH_UI M0025667 NDFRT
MMR 20130708 MSH
MN C04.700.600 MSH
MN C16.320.700.600 MSH
MN C18.452.284.520 MSH
NCI_THESAURUS_CODE C3476 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003489 NDFRT
ORIG_STY Genetic condition PDQ
PID 6649 PDQ
PM 92 MSH
PRIMARY_PATH 10066795$10052636$10008804$10010331$Li-Fraumeni syndrome$Abnormal gene carriers$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6902/li-fraumeni-syndrome/resources/1 GARD
RXAUI 3189409 RXNORM
RXAUI 3189410 RXNORM
RXCUI 988285 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q99.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q99.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Z15.01 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Z15.01 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUg1U SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T050495 MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085390

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