李-弗劳门尼综合征
医学
肉瘤
生殖系
恶性肿瘤
乳腺癌
癌症
癌症研究
种系突变
肿瘤科
内科学
突变
病理
基因
遗传学
生物
作者
Hakan Ağır,Craig MacKinnon,Swee T. Tan
标识
DOI:10.1016/j.joms.2007.09.015
摘要
First described in 1969, Li-Fraumeni syndrome (LFS) is a rare autosomal dominant multicancer syndrome characterized by a predisposition to a wide variety of neoplasms, including sarcomas, breast cancers, leukemia, and adrenocortical and brain tumors. 1 Li F.P. Fraumeni J.F. Soft-tissue sarcomas, breast cancer, and other neoplasms A familial syndrome?. Ann Intern Med. 1969; 71: 747 Crossref PubMed Scopus (1179) Google Scholar , 2 Birch J.M. Alston R.D. McNally R.J. et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene. 2001; 20: 4621 Crossref PubMed Scopus (360) Google Scholar , 3 Nichols K.E. Malkin D. Garber J.E. et al. Germline p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev. 2001; 10: 83 PubMed Google Scholar It is often associated with an early-onset malignancy, mostly sarcoma, multiple primary tumors, and a positive family (multi)cancer history. Frequently, there is a germline mutation of p53, a tumor-suppressor gene on chromosome 17p13. 4 Santibenez-Koref M. Birch J.M. Hartley A.L. et al. p53 germline mutations in Li-Fraumeni syndrome. Lancet. 1991; 338: 1490 Abstract PubMed Scopus (121) Google Scholar , 5 Hollstein M. Sidransky D. Vogelstein B. et al. p53 mutations in human cancers. Science. 1991; 253: 49 Crossref PubMed Scopus (7483) Google Scholar , 6 Levine A.J. Momand J. Finlay C.A. The p53 tumor-suppressor gene. Nature. 1991; 351: 453 Crossref PubMed Scopus (3666) Google Scholar , 7 Isobe M. Emanuel B.S. Givol D. et al. Localization of gene for human p53 to band 17p13. Nature. 1986; 320: 84 Crossref PubMed Scopus (423) Google Scholar , 8 Tominaga O. Hamelin R. Remvikos Y. et al. p53 from basic research to clinical applications. Crit Rev Oncong. 1992; 3: 257 PubMed Google Scholar
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