Germline TP53 Variants and Susceptibility to Osteosarcoma
Germline TP53 Variants and Susceptibility to Osteosarcoma
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DOI：
10.1093/jnci/djv101
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发表时间：
2015-07-01
影响因子：
10.3
通讯作者：
Savage, Sharon A.
中科院分区：
文献类型：
--
作者：
Mirabello, Lisa;Yeager, Meredith;Savage, Sharon A.
生殖系遗传变异对散发性骨肉瘤的病因学贡献还不清楚。骨肉瘤是Li-Fraumeni综合征（LFS）的前哨癌，其中约70%符合经典标准的家族具有生殖系TP 53突变。我们对765例骨肉瘤进行了TP 53外显子的测序。采用卡方检验、逻辑回归和考克斯比例风险回归模型分析数据。我们观察到高频率的年轻骨肉瘤病例（年龄
The etiologic contribution of germline genetic variation to sporadic osteosarcoma is not well understood. Osteosarcoma is a sentinel cancer of Li-Fraumeni syndrome (LFS), in which approximately 70% of families meeting the classic criteria have germline TP53 mutations. We sequenced TP53 exons in 765 osteosarcoma cases. Data were analyzed with chi(2) tests, logistic regression, and Cox proportional hazards regression models. We observed a high frequency of young osteosarcoma cases (age