2019
DOI: 10.1101/2019.12.18.881086
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Revealing the impact of recurrent and rare structural variants in multiple myeloma

Abstract: 53The landscape of structural variants (SVs) in multiple myeloma remains poorly 54 understood. Here, we performed comprehensive classification and analysis of SVs in 55 multiple myeloma, interrogating a large cohort of 762 patients with whole genome and 56 RNA sequencing. We identified 100 SV hotspots involving 31 new candidate driver 57 genes, including drug targets BCMA (TNFRSF17) and SLAMF7. Complex SVs, 58 including chromothripsis and templated insertions, were present in 61 % of patients and 59 frequently… Show more

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Cited by 9 publications
(29 citation statements)
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“…4). In the WGS cohort, SBS-MM1 and its characteristic transcriptional strand bias were observed all patients, consistent with our prior report 27 . As expected SBS35 was identified only in the two patients who received a platinum-based treatment (I-H-130718 and I-H-130720).…”
Section: Resultssupporting
confidence: 91%
See 1 more Smart Citation
“…4). In the WGS cohort, SBS-MM1 and its characteristic transcriptional strand bias were observed all patients, consistent with our prior report 27 . As expected SBS35 was identified only in the two patients who received a platinum-based treatment (I-H-130718 and I-H-130720).…”
Section: Resultssupporting
confidence: 91%
“…3 and 4; Supplementary Data 1). The majority of these aberrations were single and complex structural variants (SVs) and copy number aberrations (CNAs), confirming their critical importance in MM progression and evolution 14,27,28 . In line with previous observations, chromothripsis and templated insertion events were often observed in the trunk, while chromoplexy tended to occur in the branches (Figs.…”
Section: Resultsmentioning
confidence: 87%
“…The majority of these aberrations were single and complex SVs and CNAs, confirming their critical importance in multiple myeloma progression and evolution. 14,30,35 In line with previous observations, chromothripsis and templated insertion events were often observed in the trunk, while chromoplexy tended to occur in the branches (Figure 3). 14 In contrast to newly diagnosed multiple myelomas, mutations in known driver genes 19 were rarely identified in the branches of the phylogenetic tree, and all patients had at least one clone with a mutation involving the RAS pathway.…”
Section: Phylogenetic Tree and Disease Seedingsupporting
confidence: 89%
“…In the WGS cohort, SBS-MM1 and its characteristic transcriptional strand bias were observed all patients, consistent with our prior report. 30 As expected SBS35 was identified only in the two patients who received a platinum-based treatment (I-H-130718…”
Section: Mutational Signature Landscapesupporting
confidence: 54%
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