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Updated: Jun 2, 2025

Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

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TP53生殖基因检测和遗传性癌症:身体事件和临床标准如何影响变体检测率

Paula Rofes1,2,3, Carmen Castillo-Manzano2,4, Mireia Menéndez1,2,3

  • 1Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.

Genome medicine
|January 14, 2025
PubMed
概括

生殖系TP53致病变体 (PVs) 导致遗传TP53相关癌症综合征 (hTP53rc). 这项研究发现,29%的TP53PV携带者不符合LFS标准,强调需要更广泛的测试和更新的临床指南,包括肺癌.

关键词:
这就是TP53的特点.克隆性血液形成 (clonal hematopoiesis) 是一种血液形成的过程.遗传性癌症是一种遗传性癌症.遗传性TP53相关的癌症综合征李 - 弗劳梅尼综合征马赛主义 (Mosaicism) 是一个教派.

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