Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates Journal Article
| Authors: | Wang, Y.; Johnson, D. B.; Lu, S.; Diaz, L. A. Jr; Xu, Y.; Balko, J. M. |
| Article Title: | Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates |
| Abstract: | The progression of cancer requires mutational adaptation to permit unrestrained proliferation. A fraction of cancer mutations are oncogenic drivers, while others are putative 'passengers' that do not contribute to oncogenesis. However, altered peptides arising from passenger mutations may bind MHCs and activate non-self immunologic signals (i.e. neoantigens), thus requiring immunoediting for cancer persistence. Disruption of antigen processing machinery in tumor cells may diminish this requirement. Here, we show that rare mutations in antigen processing machinery are associated with high mutational burden and increased predicted neoantigen load, providing insights into the mechanisms of high mutation burden in some patients. © 2019 The Author(s). |
| Keywords: | treatment outcome; gene mutation; gene sequence; cancer growth; colorectal cancer; gene; cancer immunotherapy; melanoma; gene expression; tumor volume; genotype; tumor antigen; carcinogenesis; oncogene; antigen presentation; immunotherapy; genomic instability; major histocompatibility antigen class 2; tumor immunity; tumor growth; computer model; tumor gene; severe combined immunodeficiency; major histocompatibility antigen class 1; genetic database; tumor microenvironment; next generation sequencing; disease burden; bare lymphocyte syndrome; cancer; priority journal; article; ic50; whole exome sequencing; neoantigens; severe combined immunodeficiency syndrome |
| Journal Title: | Journal for ImmunoTherapy of Cancer |
| Volume: | 7 |
| ISSN: | 2051-1426 |
| Publisher: | Biomed Central Ltd |
| Date Published: | 2019-05-07 |
| Start Page: | 123 |
| Language: | English |
| DOI: | 10.1186/s40425-019-0584-2 |
| PUBMED: | 31064401 |
| PROVIDER: | scopus |
| PMCID: | PMC6503546 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 3 June 2019 -- Source: Scopus |
