First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene

Endometrial cancer (EC) harboring heterozygous POLE proofreading inactivating mutations (POLE-exo*) is associated with an increased number of somatic mutations that result in a distinctive anti-tumor immune response. However, the consequences of such POLE mutations in the context of the missing wild...

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Detalles Bibliográficos
Autores principales: Rosa, Reginaldo Cruz Alves, Yurchenko, Andrey A., Chahud, Fernando, Ribeiro-Silva, Alfredo, Brunaldi, Mariângela Ottoboni, Silva, Wilson Araújo, Kannouche, Patricia L., Nikolaev, Sergey, Ferraz, Victor Evangelista de Faria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521106/
https://www.ncbi.nlm.nih.gov/pubmed/33001133
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0100

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