Search on: LI-FRAUMENI SYNDROME 
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Descriptor English:   Li-Fraumeni Syndrome 
Descriptor Spanish:   Síndrome de Li-Fraumeni 
Descriptor Portuguese:   Síndrome de Li-Fraumeni 
Synonyms English:   Li Fraumeni Syndrome  
Tree Number:   C04.700.600
C16.320.700.600
C18.452.284.520
Definition English:   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. 
See Related English:   Genes, p53
 
History Note English:   92 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30007 
Unique Identifier:   D016864 

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