#tp53 — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #tp53, aggregated by home.social.
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Belgian donor scandal sees a man with a cancer gene conceive 52 children.
Belgium has found itself in the midst of a scandal after it was revealed that a Danish sperm donor with a pathogenic gene mutation conceived 52 children with 37 different Belgian women between 2007 and 2018.
The gene mutation, known as TP53, confers a significantly increased risk of cancer.
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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