Something I find fascinating is how different #germline mutations can affect the risk of acquiring somatic mutations and #cancer. In this recent #hematology paper, the authors found that germline #DDX41 mutations lead to myeloid neoplasia with a different spectrum of somatic mutations. Intriguingly, they also found that DDX41-mutated patients did not have worse survival even with acquired #TP53 mutations (which is normally very bad!): https://ashpublications.org/blood/article/doi/10.1182/blood.2022018221/486974/Germline-DDX41-mutations-define-a-unique-subtype #science #medicine #genomics
Germline DDX41 mutations define a unique subtype of myeloid neoplasms

Key Points. DDX41 germline mutations explain ~80% of known germline predisposition to MNs in adults, and the life-long risk was approximately 50%.DDX41-mutated

American Society of Hematology