KEGG   DISEASE: H00881Help
Entry
H00881                      Disease                                

Name
Li-Fraumeni syndrome, including:
Classic Li-Fraumeni syndrome (LFS);
LFS-like syndrome (LFSL)
Description
Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, LFS and its variants are increasingly recognized as one of the most frequent and diverse forms of predisposition to cancer. Most cases identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53). In a subset of non-p53 patients with LFS, CHEK2 has been identified as another predisposing locus. LFS is diagnosed on the basis of the confirmed clinical diagnostic criteria.
Category
Inherited metabolic disease; Cancer
BRITE hierarchy
Pathway
MAPK signaling pathway
Cell cycle
p53 signaling pathway
Apoptosis
Wnt signaling pathway
Pathways in cancer
Gene
TP53 [HSA:7157] [KO:K04451]
CHEK2 [HSA:11200] [KO:K06641]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19952748 (description)
  Authors
Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P
  Title
Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.
  Journal
Curr Opin Oncol 22:64-9 (2010)
Reference
PMID:15695383 (description, gene)
  Authors
Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R
  Title
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23.
  Journal
Cancer Res 65:427-31 (2005)
Reference
PMID:19652052 (description)
  Authors
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T
  Title
2009 version of the Chompret criteria for Li Fraumeni syndrome.
  Journal
J Clin Oncol 27:e108-9; author reply e110 (2009)

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