Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (TP53+) carriers who were identified by either MGPT or SGT.

中文翻译：

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TP53突变携带者表型的差异来自基于面板的测试

传统上已经通过临床标准触发的TP53的单基因检测（SGT）来识别Li-Fraumeni综合征（LFS），但是多基因面板检测（MGPT）的广泛使用颠覆了这一范例。我们试图比较由MGPT或SGT鉴定的TP53阳性结果（TP53 +）携带者的个人和家族癌症史。