BTK - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @albuquerqueEnhancingKnowledgeDiscovery2017, @krysiakRecurrentSomaticMutations2017, @reddyGeneticFunctionalDrivers2017, @schejbelInactivatingBTKMutations2022, @huFollicularLymphomaassociatedBTK2021,

TOC One study reported BTK mutations in approximately 7% of FL and 11% of transformed FL cases.[@krysiakRecurrentSomaticMutations2017] 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.[@albuquerqueEnhancingKnowledgeDiscovery2017] 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.[@krysiakRecurrentSomaticMutations2017] The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations[@huFollicularLymphomaassociatedBTK2021; @schejbelInactivatingBTKMutations2022]. No notable hot spots have been described in this gene in the context of the cancers listed below.

Experimental Evidence

Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@huFollicularLymphomaassociatedBTK2021]