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

8 Mar 2022

Abstract excerpt

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. We provide high throughput molecular characterization with whole-exome sequencing (WES) and DNA targeted...

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PMID: 35260767
DOI: 10.1038/s41698-022-00258-8

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