Li-Fraumeni syndrome

Summary
Synonym
  • LFS
  • Li-Fraumeni Familiar cancer Susceptibility syndrome
  • SBLA syndrome
  • sarcoma, breast, leukaemia and adrenal gland syndrome
Definition
A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:3012
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
960 CD44 CD44 molecule (IN blood group)
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1634 DCN decorin
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
5315 PKM pyruvate kinase M1/2
5728 PTEN phosphatase and tensin homolog
7157 TP53 tumor protein p53
Displaying 1 entry
Gene ID Gene Symbol Description Source
22059 Trp53 transformation related protein 53
Displaying 1 entry
Gene ID Gene Symbol Description Source
24842 Tp53 tumor protein p53

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024