Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines

Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines

Abstract Background Germline TP53 gene variants are intricately linked to Li-Fraumeni syndrome, a rare and aggressive hereditary cancer syndrome. This study investigated the frequency and spectrum of TP53 pathogenic variants associated with Li-Fraumeni syndrome in a large cohort of mainly breast can...

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Main Authors: Anastasiia Danishevich, Daria Fedorova, Natalia Bodunova, Maria Makarova, Maria Byakhova, Anna Semenova, Vsevolod Galkin, Maria Litvinova, Sergey Nikolaev, Irina Efimova, Pavel Osinin, Tatyana Lisitsa, Anastasiya Khakhina, German Shipulin, Tatiana Nasedkina, Syuykum Shumilova, Oleg Gusev, Airat Bilyalov, Elena Shagimardanova, Leyla Shigapova, Marina Nemtsova, Olesya Sagaydak, Mary Woroncow, Saida Gadzhieva, Igor Khatkov
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
TP53
NGS
Li-Fraumeni syndrome
Germline mutations
Online Access:https://doi.org/10.1186/s13053-025-00307-w
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https://doi.org/10.1186/s13053-025-00307-w

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