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RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women

Beata Smolarz1, Marek Zadrożny, Joanna Duda-Szymańska

  • 1Laboratory of Molecular Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lodz, Poland. smolbea@wp.pl

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists
|April 30, 2013
PubMed

Insights

The RAD51 gene

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • DNA double-strand breaks (DSB) are highly lethal cellular damage.
  • DSB are implicated in the development of various cancers, including triple-negative breast cancer (TNBC).
  • The RAD51 gene plays a crucial role in DNA repair via homologous recombination (HR).

Purpose of the Study:

  • To investigate the association between the RAD51 gene's single nucleotide polymorphism -135G>C (rs1801320) and TNBC risk.
  • To evaluate the RAD51 -135G>C polymorphism in Polish women with TNBC.

Main Methods:

  • Case-control study involving 50 women with TNBC and 50 controls.
  • RAD51 -135G>C polymorphism analyzed using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism).

Main Results:

  • A significant positive association was found between the RAD51 C/C genotype and TNBC (OR = 5.95, p = 0.002).
  • The homozygous C/C genotype occurred in 68% of TNBC cases versus 20% of controls.
  • The variant 135C allele of RAD51 was linked to an increased risk of TNBC.

Conclusions:

  • RAD51 gene polymorphisms, specifically the -135G>C variant, may serve as predictive factors for TNBC.
  • This is the first study to link RAD51 gene polymorphisms with TNBC incidence in Polish women.
  • Further large-scale studies are required to validate these findings.

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