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rare-variant

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Bloomed-Health / POLE-Frameshift

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Research framework for POLE c.138del (p.Leu46Phefs*8) — an ultra-rare frameshift variant causing PPAP with ultra-hypermutated tumor phenotype (TMB >100 mut/Mb). Mechanistic models, therapeutic strategies, and experimental priorities.

ppap immunotherapy rare-variant pole mutational-signatures tumor-mutational-burden dna-repair precision-oncology cancer-genetics hereditary-cancer loss-of-heterozygosity polymerase-proofreading
  • Updated Apr 17, 2026
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