DNA repair gene variants associated with benign breast disease in high cancer risk women

Timothy J. Jorgensen, Kathy J. Helzlsouer, Sandra C. Clipp, Judy Hoffman Bolton, Rosa M. Crum, Kala Visvanathan

Research output: Contribution to journalArticlepeer-review


Benign breast disease (BBD) is a risk factor for breast cancer and may have a heritable component. Deficient DNA repair has been implicated in breast cancer etiology and may exert its effect before BBD, a known precursor. The association between allelic variants in DNA repair genes and BBD was examined in a cohort of women in Washington County, Maryland. BBD was defined by two criteria: (a) a physician diagnosis of BBD or fibrocystic disease and/or (b) a benign breast biopsy. 3,212 women without BBD at baseline were genotyped for 12 candidate single nucleotide polymorphisms in seven DNA repair genes. Of these women, 482 subsequently reported a diagnosis of BBD. The Cox model was used to calculate hazard ratios (HR). Variant alleles of XRCC1 Arg194Trp (rs1799782) and ERCC4 Arg415Gln (rs1800067) were significantly associated with BBD [HR, 1.36; 95% confidence interval (95% CI), 1.06-1.74 and HR, 1.39; 95% CI, 1.09-1.76, respectively]. Similar estimates were also observed for each of the BBD criterion used. The BBD association for ERCC4 was even stronger among women with a family history of breast cancer (HR, 2.68; 95% CI, 1.52-4.66; Pinteraction = 0.02). This study suggests that variant alleles in DNA repair genes may modify BBD risk, a potential intermediate marker of breast cancer risk, particularly among high-risk subgroups.

Original languageEnglish (US)
Pages (from-to)346-350
Number of pages5
JournalCancer Epidemiology Biomarkers and Prevention
Issue number1
StatePublished - Jan 2009

ASJC Scopus subject areas

  • Epidemiology
  • Oncology


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