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Updated: May 27, 2025

Yeast As a Chassis for Developing Functional Assays to Study Human P53
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在癌症患者中评估生殖系TP53突变:对Li-Fraumeni综合征的见解和遗传测试指南

Anastasiia Danishevich1, Daria Fedorova2, Natalia Bodunova2

  • 1SBHI Moscow Clinical Scientific Center Named After Loginov of Moscow Healthcare Department, Moscow, 111123, Russia. a.danishevich@mknc.ru.

Hereditary cancer in clinical practice
|February 18, 2025
PubMed
概括

与Li-Fraumeni综合征 (LFS) 相关的生殖系TP53变体在0.4%的俄罗斯乳腺癌患者中被发现. 目前的测试指南忽略了超过一半的携带者,强调了需要更广泛的基因查.

关键词:
这就是TP53的特点.细菌线突变的发生.李 - 弗劳梅尼综合征没有NGS,没有NGS.

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