Transcriptome sequencing to detect gene fusions in cancer

Article

关键词: SOMATIC MUTATIONS;    HUMAN BREAST;    LUNG-CANCER;    IDENTIFICATION;    ABERRATIONS;    INHIBITOR;    PATTERNS;    EFFICACY;    IMATINIB;    PROTEIN;   

DOI  :  10.1038/nature07638

来源: SCIE

【 摘 要 】

Recurrent gene fusions, typically associated with haematological malignancies and rare bone and soft-tissue tumours(1), have recently been described in common solid tumours(2-9). Here we use an integrative analysis of high-throughput long- and short-read transcriptome sequencing of cancer cells to discover novel gene fusions. As a proof of concept, we successfully used integrative transcriptome sequencing to 're-discover' the BCR-ABL1 (ref. 10) gene fusion in a chronic myelogenous leukaemia cell line and the TMPRSS2-ERG(2,3) gene fusion in a prostate cancer cell line and tissues. Additionally, we nominated, and experimentally validated, novel gene fusions resulting in chimaeric transcripts in cancer cell lines and tumours. Taken together, this study establishes a robust pipeline for the discovery of novel gene chimaeras using high-throughput sequencing, opening up an important class of cancer-related mutations for comprehensive characterization.

【 授权许可】

Free