KEGG   DISEASE: Li-Fraumeni syndromeHelp
Entry
H00881                      Disease                                

Name
Li-Fraumeni syndrome
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
Other disease
Brite
Human diseases [BR:br08402]
 Other diseases
  Others
   H00881  Li-Fraumeni syndrome
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant mesenchymal neoplasms
     2B51  Osteosarcoma, primary site
      H00881  Li-Fraumeni syndrome
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04210  Apoptosis
hsa04310  Wnt signaling pathway
hsa05200  Pathways in cancer
Gene
TP53 [HSA:7157] [KO:K04451]
CHEK2 [HSA:11200] [KO:K06641]
Other DBs
ICD-11: 2B51.Y
ICD-10: Z15
MeSH: D016864
OMIM: 151623 609265
Reference
  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)
DOI:10.1097/CCO.0b013e328333bf00
Reference
  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
  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)
DOI:10.1200/JCO.2009.22.7967

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