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Mutational Signatures

All articles tagged with #mutational signatures

Chemo footprints reshape the genome of relapsed childhood cancers
science1 month ago

Chemo footprints reshape the genome of relapsed childhood cancers

A multi-institutional study of 611 pediatric tumors shows that prior cancer therapy, especially platinum-based chemotherapy, leaves distinct mutational signatures and markedly increases the mutation burden at relapse. The researchers identify both known and novel therapy-associated signatures, demonstrate that platinum-induced mutations can emerge rapidly (often within a year of treatment), and show that mutational patterns vary by drug class, revealing opportunities for treatment de-escalation and monitoring resistant clones in real time.

Genome Topography Reveals Surprising Link to Cancer Mutations
science-and-technology3 years ago

Genome Topography Reveals Surprising Link to Cancer Mutations

Researchers from the University of California San Diego have discovered a connection between the topography of the human genome and the presence of mutations in human cancer. Certain regions of the genome, with unique features, act as hotspots for the accumulation of mutations. The study highlights the potential influence of the human genome's 3D structure in the development of various forms of cancer. The researchers found that mutations linked to alcohol consumption tend to accumulate in regions of the genome that are copied early during cell division, contrary to expectations. Additionally, mutational signatures tied to antiviral activity accumulate in both early- and late-replicated regions of the genome. The findings provide valuable insights for understanding the role of topographical features in cancer development, evolution, and treatment.