Li-Fraumeni syndrome (LFS) is a rare autosomal dominant inherited genetic disorder that greatly increases the risk of developing several types of cancer, including young children and young adults. LFS is primar
Li-Fraumeni syndrome (LFS) is an inherited, autosomal-dominant condition that predisposes individuals to a wide-spectrum of tumors at an early age. Approximately 70% of families with classic LFS have pathogenic variants in the tumor suppressor genethat disrupt protein function or stability. While ...
RESULTS: Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation ...
[8] Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003. 21(3): 313-20. [9] Bowen D, Groves MJ, Burnett AK, et al. TP53 gene mutation is frequent in patients with acute myeloid leukemia and complex karyotype...
儿童脑肿瘤;Li-Fraumeni综合征;髓母细胞瘤;脉络丛乳头状癌;TP53胚系突变 Li-Fraumeni综合征(Li-Fraumeni syndrome,LFS;OMIM 151623)是一种常染色体显性遗传的肿瘤易感综合征,该病患者具有肿瘤发生高风险和肿瘤发生低龄化特点,患者发生癌症的...
In humans, inheritance of a TP53 mutation is the molecular basis of Li-Fraumeni syndrome (LFS), a rare syndrome predisposing to multiple early cancers ( Malkin et al. 1990; Srivastava et al. 1990). Extensive experimental evidences support that p53 is essential in the control of genetic ...
RESULTS: Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9....
a li-fraumeni syndrome family with retained heterozygosity for a germline tp53 mutation in two tumors.pdf 2017-01-30上传 a li-fraumeni syndrome family with retained heterozygosity for a germline tp53 mutation in two tumors 文档格式: .pdf
目的探讨儿童Li-Fraumeni综合征(Li-Fraumeni syndrome,LFS)合并颅脑肿瘤的临床特征及预后。 方法回顾性分析2016年1月至2021年1月于首都医科大学附属北京天坛医院门诊确诊为LFS患儿的临床信息,分析 TP53 基因突变位点、患者临床表型及预后。 结果共纳入8例脉络丛乳头状癌(choroid plexus carcinoma, CPC)和4例髓母细胞瘤...
Li-Fraumeni syndrome (LFS) was found to be caused by germline mutations of the TP53 gene [8]. Consistent with the higher frequency of missense TP53 mutations in tumors, the majority of LFS patients also carry missense mutations. In addition, patients with missense mutations develop cancer at ...