BCL2 promoter region mutations are an independent marker of BCL2 level in lymphoid malignancies.

NPJ Genom Med · 2026 · PMC13279811 · PMID 42315526

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highly significantno p-value reported

The analysis of selection pressure (mutation enrichment) in PCAWG classified the BCL2 hot1 region (mutations) as a highly-potent cancer driver: ActiveDriverWGS, which models the local background mutation rate while accounting for genomic covariates, including TFBS, identified the BCL2 hot1 region as a highly significant driver hotspot ( q = 3.01e-31).

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