Breast Cancer Research and Treatment

, Volume 101, Issue 1, pp 65–71 | Cite as

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



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.


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.


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.


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.


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.


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


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Grant Support: Research was funded by a National Cancer Institute Breast Spore Award (P50 CA88843), and the National Institute of Aging 5U01AG018033. T.J.J. was funded by an NIH Ruth L. Kirschstein Senior Fellow Award (NCI F33 CA09817-01). K.V. is a recipient an ASCO Career Development Award and an NIH Preventive Oncology Academic Award (NCI K07 CA111948). I.R. was supported, in part, by the Maryland Cigarette Restitution Fund Research Grant to the Johns Hopkins Medical Institutions and NIH grant CA 074841.


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Copyright information

© Springer Science+Business Media B.V. 2006

Authors and Affiliations

  • T. J. Jorgensen
    • 1
  • K. Visvanathan
    • 2
  • I. Ruczinski
    • 3
  • L. Thuita
    • 2
  • S. Hoffman
    • 2
    • 4
  • K. J. Helzlsouer
    • 2
    • 4
    • 5
  1. 1.Department of Radiation Medicine, Lombardi Comprehensive Cancer CenterGeorgetown UniversityWashingtonUSA
  2. 2.Department of EpidemiologyJohns Hopkins Bloomberg School of Public HealthBaltimoreUSA
  3. 3.Department of BiostatisticsJohns Hopkins Bloomberg School of Public HealthBaltimoreUSA
  4. 4.George W. Comstock Center for Public Health Research and PreventionHagerstownUSA
  5. 5.The Prevention and Research Center, Mercy Medical CenterBaltimoreUSA

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