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Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients

Valérie Le Morvan1, Michel Longy, Catherine Bonaïti-Pellié

  • 1Laboratory of Pharmacology of Anticancer Agents EA 515, Institut Bergonié & Université Victor Segalen Bordeaux 2, Bordeaux, France.

International Journal of Cancer
|April 29, 2006
PubMed

Insights

Genetic variations in DNA repair genes XPG and XPD may influence sarcoma development. The XPG Asp1104His polymorphism is linked to chromosomal translocations in specific soft tissue sarcomas.

Area of Science:

  • Oncology
  • Molecular Genetics
  • Cancer Genomics

Background:

  • Soft tissue sarcomas (STS) encompass over 50 subtypes, with 30% linked to specific genetic alterations like translocations.
  • The nucleotide excision repair (NER) pathway, involving over 20 proteins, plays a role in DNA repair, and its gene polymorphisms have been associated with cancer risk.

Purpose of the Study:

  • To investigate the association between XPD Lys751Gln and XPG Asp1104His polymorphisms and the occurrence of genetic alterations in various STS subtypes.
  • To explore the potential role of these polymorphisms in the development of chromosomal translocations in STS.

Main Methods:

  • Genotyping of DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas, and leiomyosarcomas for XPD and XPG polymorphisms.
  • Analysis of Hardy-Weinberg equilibrium deviations and loss of heterozygosity for the studied polymorphisms.
  • Correlation analysis between genotypes and the presence of specific genetic alterations, particularly chromosomal translocations.

Main Results:

  • Significant deviations from Hardy-Weinberg equilibrium were observed for the XPG polymorphism in synovial sarcomas, myxoid liposarcomas, and DFSP.
  • Significant deviations were also noted for the XPD polymorphism in synovial sarcomas and DFSP.
  • The variant XPG allele was significantly increased in sarcomas with specific translocations compared to those with complex genetics (p < 10(-9)).
  • Frequent loss of heterozygosity for XPG was observed in synovial sarcomas and myxoid liposarcomas, primarily due to loss of the common allele.

Conclusions:

  • The XPG Asp1104His polymorphism may be implicated in the occurrence of chromosomal translocations associated with specific STS subtypes.
  • Further research is warranted to elucidate the precise mechanisms linking XPG polymorphisms to sarcoma development and genetic instability.

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