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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Genomic instability in early systemic sclerosis.

Robert Gniadecki1, Aishwarya Iyer1, Dylan Hennessey1

  • 1Division of Dermatology, University of Alberta, Canada.

Journal of Autoimmunity
|July 8, 2022
PubMed
Summary
This summary is machine-generated.

Systemic sclerosis (SSc) skin shows significant mutations, including cancer driver genes. These somatic mutations in non-cancerous tissue may contribute to the development of SSc.

Keywords:
Cancer-driver DNA mutationsClock-like mutational signatureEarly systemic sclerosisGenomic instabilitySkin cells

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Area of Science:

  • Dermatology
  • Oncology
  • Genetics

Background:

  • Systemic sclerosis (SSc) is linked to secondary cancers.
  • Mutated cancer proteins are suspected autoantigens in SSc.
  • The role of mutations in non-neoplastic SSc tissue is unknown.

Purpose of the Study:

  • Investigate mutations in non-neoplastic SSc tissue.
  • Determine if these mutations contribute to SSc pathogenesis.

Main Methods:

  • Whole exome sequencing of microdissected dermal fibrosis from SSc skin biopsies.
  • Comparison of mutation patterns with autologous buccal cells.

Main Results:

  • SSc skin biopsies exhibited hypermutation (58 mutations/10^6 base pairs).
  • Mutational patterns showed a clock-like signature common in cancers and senescent cells.
  • 39 cancer driver genes were mutated in at least two patients, involved in epigenetic regulation, DNA repair, and genome integrity.

Conclusions:

  • Somatic hypermutation occurs in fibrotic SSc skin.
  • Cancer driver gene mutations may play a key role in SSc pathogenesis.