Research framework for POLE c.138del (p.Leu46Phefs*8); Confirmed germline pathogenic frameshift variant clinically consistent w/ PPAP (reported ultra-hypermutated; tumour signature confirmation pending). Mechanistic models, differential diagnosis, 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
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May 27, 2026 - TeX