Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland

T. J. Jorgensen, K. Visvanathan, I. Ruczinski, L. Thuita, S. Hoffman, K. J. Helzlsouer

Research output: Contribution to journalArticle


Background: The genes mutated in the cancer-prone syndrome, xeroderma pigmentosum (XP genes), have been well studied both biochemically and mechanistically. These genes are important components of the DNA nucleotide excision repair (NER) pathway, which protects against environmentally-induced cancers. XP genes are also downstream of the hereditary breast cancer syndrome gene, BRCA1, suggesting that XP genes may be important to hereditary forms of breast cancer as well. Although mutated XP genes are rare, polymorphic forms with potential functional deficiencies are common, and could pose a significant cancer risk in the general population. Hypothesis: This study tested the hypothesis that common polymorphic variants of XP genes were associated with the risk of breast cancer among a population of women in Washington County, Maryland. Methods: Five single nucleotide polymorphisms (SNPs) among four XP genes (XPC, XPD, XPF and XPG) were genotyped from DNA samples collected at baseline, and then analyzed by conditional logistic regression for association with the incidence of breast cancer. 321 cases were individually matched to 321 controls, by age and menopausal status. Results: No significant associations were found between breast cancer risk and any of the XP genotypes. Odds ratios for all genotypes ranged from 0.61 to 1.14, and none were statistically significant. Adjustment and stratification for family history of breast cancer did not alter the findings. Conclusion: These results suggest that polymorphisms of XP genes are not likely to be significant risk factors for women within the general population. This study did not address, however, risks for subpopulations of women with high exposures to DNA damaging agents.

Original languageEnglish (US)
Pages (from-to)65-71
Number of pages7
JournalBreast Cancer Research and Treatment
Issue number1
StatePublished - Jan 1 2007



  • Breast cancer
  • DNA repair
  • Genetic cancer risk
  • Single nucleotide polymorphisms (SNPs)
  • Xeroderma pigmentosum

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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