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Updated: Jun 24, 2025

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
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POT1瘤倾向:更广泛的相关恶性瘤谱和建议进行额外的查计划

Marta Baptista Freitas1, Laurence Desmyter2, Cindy Badoer2

  • 1Centro Hospitalar Universitário de São João, Oporto, Portugal. martacbfreitas@gmail.com.

European journal of human genetics : EJHG
|June 5, 2024
PubMed
概括

端粒蛋白1 (POT1) 基因保护中的致病变体可以导致POT1瘤倾向综合征 (POT1-TPD),增加癌症风险. 这项研究确定了更广泛的POT1-TPD癌症谱,包括瘤和甲状腺癌,有助于未来的查和遗传咨询.

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