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PLCG2

From www.haematologyetc.co.uk



Gene affected:
Phospholipase C, gamma 2 (PLCG2)


Clinical significance
This gene is not believed to be directly involved in the development of lymphoma, but mutations are associated with loss of response to ibrutinib therapy



Function of gene

A signalling enzyme involved in lipid-mediated signals from membrane receptors for growth factors and immune responses. Mutation of the gene have been found in autoinflammation, antibody deficiency, and an immune dysregulation syndrome (familial cold autoinflammatory syndrome 3).


NGS panel gene coverage

The panel covers the whole gene. (Chromosome 16q23.3)



Occurrence:and significance


New mutations affecting PLCG2 may be a secondary mechanism of ibrutinib resistance in CLL and WM: mutations affecting BTK itself or its downstream mediator PLCG2 have been identified in the majority of ibrutinib-resistant cases (80%) with around one third of these mutations involving PLCG2).



Links

GeneWiki link:
Gene Wiki entry for PLCG2
General reference on Ibrutinib resistance
Resistance mechanisms