KEGG   DISEASE: H00881Help
H00881                      Disease                                

Li-Fraumeni syndrome, including:
Classic Li-Fraumeni syndrome (LFS);
LFS-like syndrome (LFSL)
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.
Inherited metabolic disease; Cancer
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of DNA repair systems
   H00881  Li-Fraumeni syndrome
Human diseases in ICD-10 classification [BR:br08403]
 21. Factors influencing health status and contact with health services (Z00-Z99)
  Z80-Z99  Persons with potential health hazards related to family and personal history and certain conditions influencing health status
   Z80  Family history of malignant neoplasm
    H00881  Li-Fraumeni syndrome
BRITE hierarchy
MAPK signaling pathway
Cell cycle
p53 signaling pathway
Wnt signaling pathway
Pathways in cancer
TP53 [HSA:7157] [KO:K04451]
CHEK2 [HSA:11200] [KO:K06641]
Other DBs
PMID:19952748 (description)
Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P
Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.
Curr Opin Oncol 22:64-9 (2010)
PMID:15695383 (description, gene)
Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23.
Cancer Res 65:427-31 (2005)
PMID:19652052 (description)
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
2009 version of the Chompret criteria for Li Fraumeni syndrome.
J Clin Oncol 27:e108-9; author reply e110 (2009)

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