KEGG   DISEASE: Li-Fraumeni syndrome
H00881                      Disease                                
Li-Fraumeni syndrome
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.
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms 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
hsa04010  MAPK signaling pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04210  Apoptosis
hsa04310  Wnt signaling pathway
(LFS) TP53 [HSA:7157] [KO:K04451]
(LFS2) CHEK2 [HSA:11200] [KO:K06641]
Other DBs
ICD-11: 2B51.Y
ICD-10: Z15
MeSH: D016864
OMIM: 151623 609265
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)
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)
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:1978757 (LFS)
Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al.
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
Science 250:1233-8 (1990)
PMID:10617473 (LFS2)
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Science 286:2528-31 (1999)

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