| H00881 | |
| H番号 | H00881 |
| 名称 | リー・フラウメニ症候群 |
| 概要 | 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. |
| カテゴリ | 新生物 |
| ネットワーク | - |
| 病因遺伝子 | (LFS) TP53 [HSA:7157] [KO:K04451] (LFS2) CHEK2 [HSA:11200] [KO:K06641] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2B51.Y ICD-10: Z15 MeSH: D016864 OMIM: 151623 609265 |
| 文献 | PMID:15695383 著者 Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R タイトル Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. 雑誌 Cancer Res 65:427-31 (2005) PMID:19652052 著者 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 タイトル 2009 version of the Chompret criteria for Li Fraumeni syndrome. 雑誌 J Clin Oncol 27:e108-9; author reply e110 (2009) DOI:10.1200/JCO.2009.22.7967 PMID:19952748 著者 Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P タイトル Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. 雑誌 Curr Opin Oncol 22:64-9 (2010) DOI:10.1097/CCO.0b013e328333bf00 PMID:1978757 (LFS) 著者 Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al. タイトル Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 雑誌 Science 250:1233-8 (1990) DOI:10.1126/science.1978757 PMID:10617473 (LFS2) 著者 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 タイトル Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 雑誌 Science 286:2528-31 (1999) DOI:10.1126/science.286.5449.2528 |