TP53 mutation frequency

1. ERCC6L2 disease is linked with higher TP53 mutation frequency in humans (compared with Shwachman-Diamond syndrome).

   “TP53 mutations were more frequent, more often multiple, and showed steeper age-related expansion than in SDS”

   Humanscompared with Shwachman-Diamond syndrome

   Intense TP53 pathway selection drives clonal evolution from bone marrow failure to leukemia in ERCC6L2 disease

   medRxiv·Sep 17, 2026Preprint

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