e8a7f8f37ae3544ed168b70e6eb62dc748ad98da
BACH2.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | -Mutations in this gene were first described in BL in 2019 by Grande et al.<sup>[@grandeGenomewideDiscoverySomatic2019]</sup> |
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| 8 | +Mutations in this gene were first described in BL in 2019 by Grande et al.[@grandeGenomewideDiscoverySomatic2019] |
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| 9 | 9 | |
| 10 | 10 | |
| 11 | 11 | ## Relevance tier by entity |
| ... | ... | @@ -25,7 +25,7 @@ Mutations in this gene were first described in BL in 2019 by Grande et al.<sup>[ |
| 25 | 25 | ## aSHM regions |
| 26 | 26 | |
| 27 | 27 | |chr_name|hg19_start|hg19_end|region|regulatory_comment| |
| 28 | -|:--------:|:----------:|:--------:|::--------:|:------------------:| |
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| 28 | +|:--------:|:----------:|:--------:|:--------:|:------------------:| |
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| 29 | 29 | |chr6 |90981034 |91016134|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr6%3A90981034%2D91016134)|NA | |
| 30 | 30 | |
| 31 | 31 |
EEF1A1.md
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| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | -Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.<sup>2</sup> This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. Paradoxically, one study showed that EEF1A1 knock down reduced proliferation in vitro and in xenograft experiments.<sup>1</sup> |
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| 9 | +Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.[@hubschmannMutationalMechanismsShaping2021] This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. Paradoxically, one study showed that EEF1A1 knock down reduced proliferation in vitro and in xenograft experiments.[@reichelFlowSortingExome2015] |
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| 10 | 10 | |
| 11 | -Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>2</sup> |
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| 11 | +Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] |
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| 12 | 12 | |
| 13 | 13 | |
| 14 | 14 | ## Relevance tier by entity |