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Interpretation 37
Tier 1
PAX5
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

PAX5 is an important transcription factor in B cell development. Somatic deletions, rearrangements and mutations of PAX5 are seen in approximately 30% of B-ALL. Mutations most commonly include missense and frameshift mutations throughout the gene which typically lead to decreased transcriptional activation by PAX5. A frequent site of mutation is Pro80. Interestingly, a germline variant in PAX5 has been recently described (p.Gly183Ser) that is linked to family history of B-ALL and development of leukemia when associated with 9p deletion(loss of heterozygosity) and retention of the mutant allele in tumor cells; mutations at this codon have also been reported in tumors as a somatic alteration.

Citations
  1. Shah S, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 2013;45(10):1226-31
  2. Liu GJ, et al. Pax5 loss imposes a reversible differentiation block in B-progenitor acute lymphoblastic leukemia. Genes Dev 2014;28(12):1337-50
Last updated: 2016-06-04 23:05:51 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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