A comprehensive review and expression analysis of polymorphisms in DNA repair genes linked to leukemia - Report - MDSpire

A comprehensive review and expression analysis of polymorphisms in DNA repair genes linked to leukemia

  • By

  • Honghui Ye

  • Jinyong Fang

  • Pei Jin

  • April 23, 2026

  • 0 min

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Clinical Report: Polymorphisms in DNA Repair Genes Linked to Leukemia

Overview

This review evaluates the association between DNA repair gene polymorphisms and leukemia risk, highlighting significant findings for specific genes. Notably, polymorphisms in XPD, XPC, and XRCC1 were linked to increased susceptibility to leukemia.

Background

Leukemia represents a significant global health concern, accounting for a notable percentage of cancer cases and deaths. Genetic factors, particularly polymorphisms in DNA repair genes, may play a crucial role in the development of leukemia, influencing individual susceptibility. Understanding these associations can aid in risk stratification and the development of targeted therapies.

Data Highlights

GenePolymorphismAssociation
ERCC18092C>ASignificant in homozygous and dominant models
XPDLys751GlnSignificant across all models
XPCLys939GlnSignificant in allelic, homozygous, and recessive models
XRCC1Arg194TrpSignificant association
XRCC1Arg399GlnSignificant association
XRCC3Thr241MetSignificant association

Key Findings

  • ERCC1 8092C>A shows significant associations in homozygous and dominant models.
  • XPD Lys751Gln polymorphism is significantly associated with leukemia across all genetic models.
  • XPC Lys939Gln demonstrates significant associations in allelic, homozygous, and recessive models.
  • XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with increased leukemia risk.
  • Gene expression analyses reveal subtype-specific alterations in DNA repair genes across leukemia datasets.

Clinical Implications

The identification of specific DNA repair gene polymorphisms associated with leukemia risk can inform genetic screening and risk assessment strategies. Clinicians may consider these genetic factors when evaluating patient susceptibility and tailoring treatment approaches.

Conclusion

This comprehensive review underscores the importance of DNA repair gene polymorphisms in leukemia susceptibility and highlights the need for further research to integrate these findings into clinical practice.

References

  1. Blood Cancer Journal, 2024 -- Genetic Factors Influencing Therapy-Related Leukemia
  2. Blood Cancer Journal, 2017 -- Inherited Genetic Variants Linked to Diffuse Large B-Cell Lymphoma Risk
  3. Blood Cancer Journal, 2015 -- Profiling Genetic and Epigenetic Changes in CLL Progression
  4. Blood Cancer Journal, 2021 -- Analysis of uncommon germline mutations in familial cases of multiple myeloma
  5. Genetic risk classification for adults with AML receiving less-intensive therapies: the 2024 ELN recommendations
  6. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf
  7. Frontiers | A meta-analysis and expression profiling of DNA repair gene polymorphisms in leukemia
  8. Genetic risk classification for adults with AML receiving less-intensive therapies: the 2024 ELN recommendations
  9. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf
  10. Frontiers | A meta-analysis and expression profiling of DNA repair gene polymorphisms in leukemia

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