KEGG DISEASE: Li-Fraumeni syndrome

DISEASE: Li-Fraumeni syndrome

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

Neoplasm

Brite

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

Pathway

hsa04010

MAPK signaling pathway

hsa04110

Cell cycle

hsa04115

p53 signaling pathway

hsa04210

Apoptosis

hsa04310

Wnt signaling pathway

Gene

(LFS) TP53 [HSA:7157] [KO:K04451]
(LFS2) CHEK2 [HSA:11200] [KO:K06641]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:15695383

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

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

Reference

PMID:19952748

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

PMID:1978757 (LFS)

Authors

Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al.

Title

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

Journal

Science 250:1233-8 (1990)
DOI:10.1126/science.1978757

Reference

PMID:10617473 (LFS2)

Authors

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

Title

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

Journal

Science 286:2528-31 (1999)
DOI:10.1126/science.286.5449.2528

» Japanese version

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Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (5)   
   PubMed (5)   
All databases (11)   

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