Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer
Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer
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DOI：
10.1002/ijc.32424
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发表时间：
2020-01-15
影响因子：
6.4
通讯作者：
Xie, Yuntao
中科院分区：
文献类型：
--
作者：
Sheng, Shuyan;Xu, Ye;Xie, Yuntao
在一个大型的未经选择的乳腺癌系列中，TP53胚系突变的患病率和临床相关性在很大程度上是未知的。在这里，我们通过基于多基因小组的下一代和/或Sanger测序分析，在10,053名未被选中的乳腺癌患者的大队列中确定了TP53胚系突变。我们发现，在这一大系列10,053例未经选择的乳腺癌患者中，0.5%的患者(50例)携带致病性TP53胚系突变，而在极早发乳腺癌(AGE)中，TP53胚系突变的患病率为3.8%
The prevalence and clinical relevance of TP53 germline mutations in a large unselected breast cancer series are largely unknown. Here, we determined TP53 germline mutations in a large cohort of 10,053 unselected breast cancer patients through multigene panel-based next-generation and/or Sanger sequencing assays. We found that 0.5% of patients (50 cases) carried a pathogenic TP53 germline mutation in this large series of 10,053 unselected breast cancer patients, and the prevalence of TP53 germline mutation was 3.8% in very early onset breast cancer (age