4a316796acbda633d615e0145f2bb2e6f66a159f
BTK.md
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| 7 | -One study reported BTK mutations in approximately 7% of FL and 11% of transformed FL cases.<sup>[@krysiakRecurrentSomaticMutations2017]</sup> Another showed these mutations were more common, and typically co-occur in tumours with BCL2 translocations. Despite the known role of certain BTK mutations in acquired resistance to BTK inhibitors, these mutations were found in BTK inhibitor-naïve patients.<sup>[@albuquerqueEnhancingKnowledgeDiscovery2017]</sup> These mutations often occur in treatment-naive patients and lead to inactivation of the BTK protein through destabilization or by altering key residues involved in enzymatic activity.<sup>[@krysiakRecurrentSomaticMutations2017]</sup> The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. No notable hot spots have been described in this gene in the context of the cancers listed below. |
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| 7 | +One study reported BTK mutations in approximately 7% of FL and 11% of transformed FL cases.<sup>[@krysiakRecurrentSomaticMutations2017]</sup> Another showed these mutations were more common, and typically co-occur in tumours with BCL2 translocations. Despite the known role of certain BTK mutations in acquired resistance to BTK inhibitors, these mutations were found in BTK inhibitor-naïve patients.<sup>[@albuquerqueEnhancingKnowledgeDiscovery2017]</sup> These mutations often occur in treatment-naive patients and lead to inactivation of the BTK protein through destabilization or by altering key residues involved in enzymatic activity.<sup>[@krysiakRecurrentSomaticMutations2017]</sup> The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*<sup>[@huFollicularLymphomaassociatedBTK2021; @schejbelInactivatingBTKMutations2022]</sup>. No notable hot spots have been described in this gene in the context of the cancers listed below. |
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| 9 | 9 | |
| 10 | 10 | ## Relevance tier by entity |
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| 36 | 36 | ## References |
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| 38 | -[@huFollicularLymphomaassociatedBTK2021] |
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| 39 | -[@schejbelInactivatingBTKMutations2022] |
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