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ARID1A

From www.haematologyetc.co.uk



Gene affected:
ARID1A (AT-Rich Interaction Domain 1A)


Clinical significance
ARID1A controls gene transcription and is recurrently mutated in Follicular lymphoma, but mutation is also seen in other lymphoma types. Mutation disrupts a range of functional processes, and may slow particularly slow DNA repair sensitising cells to DNA damage during therapy. The link to prognosis remains unclear at present.




Function of gene

This gene encodes a member of the SWI/SNF family, responsible for regulation of gene transcription by altering chromatin structure around specific genes. ARID1A is frequently disrupted a range of cancers and developmental disorders resulting in loss of expression. The precise role in malignancy is unclear, but it may act as a tumour suppressor.

NGS panel gene coverage

The panel covers the whole gene. (Chr 1p36.11)



Occurrence:and significance


Marginal Zone Lymphoma (1-10% of cases)
Prognostic significance is unclear
Follicular lymphoma (11-20% of cases)
Prognostic significance is unclear
Mantle Cell Lymphoma (1-5% of cases)
Prognostic significance is unclear
CLL (1-10%)
Prognostic significance is unclear
Waldenstrom’s Macroglobulinaemia (11-20%)
Prognostic significance is unclear



Links

GeneWiki link:
Gene Wiki entry for ARID1A
References
1. General review