作者: Reety Arora , Jae Eun Choi , Paul W. Harms , Pratik Chandrani
DOI: 10.1101/2020.08.03.234799
关键词: Merkel cell polyomavirus 、 Merkel cell carcinoma 、 Biology 、 Gene 、 Cancer 、 Exome sequencing 、 Chromosome 、 Cancer research 、 Tumor suppressor gene 、 Human genome
摘要: Merkel cell carcinoma (MCC) is an uncommon, lethal cancer of the skin caused by either polyomavirus (MCV) or UV-linked mutations. MCV found integrated into MCC tumor genomes, accompanied truncation mutations that render large T antigen replication incompetent. We used open access HPV Detector/ Cancervirus Detector tool to determine integration sites in whole exome sequencing data from 5 cases, thereby adding limited published site junction data. also systematically reviewed on for human genome, presenting a collation 123 cases and their linked chromosomal sites. confirm there are no highly recurrent specific integration. that, chromosome most frequently involved significantly enriched genes with binding oncogenic transcription factors such as LEF1 ZEB1, suggesting possibility increased chromatin these gene sets. Additionally, one case we involving suppressor KMT2D first time, previous reports rare host MCC.