High prevalence of unusual KRAS, NRAS, and BRAF mutations in POLE‐hypermutated colorectal cancers
| Title: | High prevalence of unusual KRAS, NRAS, and BRAF mutations in POLE‐hypermutated colorectal cancers |
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| Authors: | Loetitia Favre, Justine Cohen, Julien Calderaro, Adrien Pécriaux, Cong‐Trung Nguyen, Rémi Bourgoin, Laura Larnaudie, Aurélie Dupuy, Marie Ollier, Emmanuèle Lechapt, Ivan Sloma, Christophe Tournigand, Benoit Rousseau, Anaïs Pujals |
| Source: | Molecular Oncology, Vol 16, Iss 17, Pp 3055-3065 (2022) |
| Publisher Information: | Wiley, 2022. |
| Publication Year: | 2022 |
| Collection: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| Subject Terms: | colorectal cancers, immunotherapy, POLE, polymerase epsilon, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| More Details: | Exonucleasic domain POLE (edPOLE) mutations, which are responsible for a hypermutated tumor phenotype, occur in 1–2% of colorectal cancer (CRC) cases. These alterations represent an emerging biomarker for response to immune checkpoint blockade. This study aimed to assess the molecular characteristics of edPOLE‐mutated tumors to facilitate patient screening. Based on opensource data analysis, we compared the prevalence of edPOLE mutations in a control group of unselected CRC patients (n = 222) vs a group enriched for unusual BRAF/RAS mutations (n = 198). Tumor mutational burden (TMB) and immune infiltrate of tumors harboring edPOLE mutations were then analyzed. In total, 420 CRC patients were analyzed: 11 edPOLE‐mutated tumors were identified, most frequently in microsatellite (MMR)‐proficient young ( |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1878-0261 1574-7891 |
| Relation: | https://doaj.org/toc/1574-7891; https://doaj.org/toc/1878-0261 |
| DOI: | 10.1002/1878-0261.13257 |
| Access URL: | https://doaj.org/article/de57e5bff1614f3a8b7c4347a9846920 |
| Accession Number: | edsdoj.57e5bff1614f3a8b7c4347a9846920 |
| Database: | Directory of Open Access Journals |
| ISSN: | 18780261 15747891 |
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| DOI: | 10.1002/1878-0261.13257 |
| Published in: | Molecular Oncology |
| Language: | English |