Bibliographic Details
| Title: |
Linked-read based analysis of the medulloblastoma genome. |
| Authors: |
Zwaig, Melissa, Johnston, Michael J., Lee, John J. Y., Farooq, Hamza, Gallo, Marco, Jabado, Nada, Taylor, Michael D., Ragoussis, Jiannis |
| Source: |
Frontiers in Oncology; 2023, p1-15, 15p |
| Subject Terms: |
CEREBELLAR tumors, GENE rearrangement, MEDULLOBLASTOMA, SOMATIC mutation, EXTRACHROMOSOMAL DNA, GENOMES |
| Abstract: |
Introduction: Medulloblastoma is the most common type of malignant pediatric brain tumor with group 4 medulloblastomas (G4 MBs) accounting for 40% of cases. However, the molecular mechanisms that underlie this subgroup are still poorly understood. Point mutations are detected in a large number of genes at low incidence per gene while the detection of complex structural variants in recurrently affected genes typically requires the application of long-read technologies. Methods: Here, we applied linked-read sequencing, which combines the long-range genome information of long-read sequencing with the high base pair accuracy of short read sequencing and very low sample input requirements. Results: We demonstrate the detection of complex structural variants and point mutations in these tumors, and, for the first time, the detection of extrachromosomal DNA (ecDNA) with linked-reads. We provide further evidence for the high heterogeneity of somatic mutations in G4 MBs and add new complex events associated with it. Discussion: We detected several enhancer-hijacking events, an ecDNA containing the MYCN gene, and rare structural rearrangements, such a chromothripsis in a G4 medulloblastoma, chromoplexy involving 8 different chromosomes, a TERT gene rearrangement, and a PRDM6 duplication. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |
