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Major biological processes involved in the development of myeloma uncovered

Mutational signatures could help improve myeloma patient prognosis

Myeloma UK funded research from The Institute of Cancer Research, London, has identified the main biological processes which cause the genetic mutations associated with the development of myeloma.

The research, published in Blood Cancer Journal, increases our knowledge of how myeloma develops and evolves and also suggests that analysis of mutational signatures could play a role in helping identify high risk myeloma patients and predicting patient outcomes.  This will aid the development of more personalised treatments for myeloma patients and help to drive improved diagnosis and assessment of prognosis.

The team at The Institute of Cancer Research (ICR) analysed whole-genome sequencing (WGS) and whole-exome sequencing (WES) data from more than 800 myeloma patients, collected as part of the CoMMpass trial, to identify and map out which mutational signatures, involved in the development of cancer, were also found in myeloma cells.

By studying the mutational signatures present in myeloma cells, the researchers identified the biological processes driving the mutational changes contributing to the development and evolution of myeloma.

The results showed that four biological processes cause 80% of the mutations found in myeloma.
These processes were:

  • Ageing
  • Errors in DNA repair 
  • Dysfunction of the RNA/DNA editing activation-induced deaminases (AID)
  • Dysfunction of apolipoprotein B editing complexes (APOBEC)

The data also provides evidence of mutational signature specificity between patient sub-groups whi…

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