bioRxiv
Mutation patterns linked to blood cancer in inherited disorders
An analysis of 658 samples from 309 patients with inherited blood disorders linked distinct mutation sequences to progression toward blood cancers.An analysis of 658 samples from 309 patients with inherited blood disorders linked distinct mutation sequences to progression toward blood cancers.
Preprint: cohort · 309 peopleMechanisms
Who was studied309 patients with severe congenital neutropenia or Shwachman-Diamond syndrome
What changedIn Shwachman-Diamond syndrome, a TP53 mutation frequency above 0.074 distinguished patients who developed blood cancer from those who did not
The catchOnly selected cases received single-cell sequencing, potentially biasing which mutation combinations were confirmed