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Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation

10 Sept 2024

Abstract excerpt

The PAX5 gene is one of the cancer predisposing genes that confer high penetrance susceptibility selectively to childhood BCP-ALL [ 1 , 2 ]. Currently, 4 different PAX5 germline variants (p.Gly183Ser; p.Gly183Arg; p.Arg38His; c.1013-2A>G, exon 6 deletion) have been described in 26 patients of 13 families, with incomplete penetrance of the phenotype [ 3 , 4 , 5 , 6 , 7 , 8 , 9 ]. All family members who developed...

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PMID: 39256601
DOI: 10.1038/s41375-024-02399-0

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