EEF1A1.md
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- @hubschmannMutationalMechanismsShaping2021, @reichelFlowSortingExome2015,
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+ @hubschmannMutationalMechanismsShaping2021, @reichelFlowSortingExome2015, @chapuyMolecularSubtypesDiffuse2018
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[[_TOC_]]
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## Overview
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-Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL by [Chapuy et al](papers/chapuyMolecularSubtypesDiffuse2018.md) and FL by [Hubschmann et al](papers/hubschmannMutationalMechanismsShaping2021.md).[@chapuyMolecularSubtypesDiffuse2018; @hubschmannMutationalMechanismsShaping2021]
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+Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in PMBL by [Reichel et al](papers/reichelFlowSortingExome2015),
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+DLBCL by [Chapuy et al](papers/chapuyMolecularSubtypesDiffuse2018.md) and FL by [Hubschmann et al](papers/hubschmannMutationalMechanismsShaping2021.md).[@reichelFlowSortingExome2015; @chapuyMolecularSubtypesDiffuse2018; @hubschmannMutationalMechanismsShaping2021]
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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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## Relevance tier by entity