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Molecular origins of APOBEC-associated mutations in cancer

Mia Petljak1, John Maciejowski2

  • 1Broad Institute of MIT and Harvard, Cambridge, MA, 02142 , USA.

DNA Repair
|August 21, 2020
PubMed

Insights

The APOBEC family of cytidine deaminases is a key source of cancer mutations. Research highlights new cell models and proposes causes for APOBEC misregulation in cancer mutagenesis.

Area of Science:

  • Biochemistry
  • Genetics
  • Oncology

Background:

  • The APOBEC (apolipoprotein B mRNA editing catalytic polypeptide-like) family of cytidine deaminases is implicated as a significant source of mutations in various cancers.
  • Understanding the mechanisms and causes of APOBEC-mediated mutagenesis is crucial for cancer research.

Purpose of the Study:

  • To summarize the evidence linking APOBEC deaminases to cancer mutagenesis.
  • To introduce novel human cell models for studying APOBEC mutagenesis.
  • To propose potential causes and mechanisms of APOBEC misregulation in cancer.

Main Methods:

  • Review of existing scientific literature on APOBEC deaminases and cancer.
  • Identification and characterization of human cell lines with endogenous APOBEC activity.
  • Development of a cell system to study telomere crisis-associated mutations.

Main Results:

  • Compilation of evidence supporting the role of APOBEC deaminases in driving cancer mutations.
  • Presentation of new cellular models that mimic APOBEC mutagenesis in cancer.
  • Identification of potential instigating factors and mutational mechanisms behind APOBEC activity.

Conclusions:

  • APOBEC deaminases are a major contributor to the cancer mutational landscape.
  • Novel cell models provide valuable tools for investigating APOBEC-driven mutagenesis.
  • Further research into APOBEC misregulation is essential for understanding cancer development and therapeutic strategies.
Keywords:
APOBEC mutationsCancer cell linesCancer mutagenesisChromothripsisKataegisMutational signature

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