Decreased breast cancer risk in systemic lupus erythematosus: The search for a genetic basis continues

S. Bernatsky*, D. F. Easton, A. Dunning, K. Michailidou, R. Ramsey-Goldman, C. Gordon, A. E. Clarke, W. Foulkes

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Purpose: Recent work has demonstrated an important decrease in breast cancers for women with systemic lupus erythematosus (SLE). The reason behind this phenomenon is unknown. Our purpose was to explore whether the single nucleotide polymorphisms (SNPs) predisposing to SLE might be protective against breast cancer (in women in the general population). Methods: We focused on loci relevant to 10 SNPs associated with SLE (with a p value of <10-9). We determined whether we could establish a decreased frequency of these SNPs in breast cancer cases versus controls, within the general population. To do this we used a large breast cancer genome-wide association study (GWAS) dataset, involving 3,659 breast cancer cases and 4,897controls. These subjects were all primarily of European ancestry. Results: The population-based GWAS breast cancer data we examined suggested little evidence for important associations between breast cancer and SLE-related SNPs. Within the general population GWAS data, a cytosine(C) nucleotide substitution at rs9888739 (on chromosome 16p11.2) showed a very weak inverse association with breast cancer. The odds ratio (OR) for the rs9888739-C allele was 0.907551 (p value 0.049899) in the GWAS breast cancer sample, compared to controls. There was a slightly stronger, positive, association with breast cancer for rs6445975-G (Guanine) on chromosome 3p14.3, with a breast cancer OR of 1.0911 (p value 0.0097). Conclusions: Within this large breast cancer dataset, we did not demonstrate important associations with 10 lupus-associated SNPs. If decreased breast cancer risk in SLE is influenced by genetic profiles, this may be due to complex interactions and/or epigenetic factors.

Original languageEnglish (US)
Pages (from-to)896-899
Number of pages4
Issue number8
StatePublished - Jul 2012


  • Systemic lupus
  • breast cancer risk

ASJC Scopus subject areas

  • Rheumatology


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