Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors

The onset of multiple and metachronous tumors in young patients induces to suspect the presence of genetic variants in genes associated with tumorigenesis. We describe here the unusual case of a 16-year-old patient who developed a synchronous bifocal colorectal adenocarcinoma with distant metastases...

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Detalles Bibliográficos
Autores principales: Berrino, Enrico, Filippi, Roberto, Visintin, Clara, Peirone, Serena, Fenocchio, Elisabetta, Farinea, Giovanni, Veglio, Franco, Aglietta, Massimo, Sapino, Anna, Cereda, Matteo, Visintin, Rosella, Pasini, Barbara, Marchiò, Caterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904527/
https://www.ncbi.nlm.nih.gov/pubmed/35260767
http://dx.doi.org/10.1038/s41698-022-00258-8

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