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Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer
Breast Cancer Research (2004)
  • David G. Cox
  • Peter Kraft
  • Susan E. Hankinson, University of Massachusetts - Amherst
  • David J. Hunter
Introduction Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. Method We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). Results One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. Conclusions We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear.
  • breast cancer,
  • BRCA1,
  • haplotype,
  • single nucleotide polymorphism
Publication Date
December 16, 2004
Publisher Statement
This article was harvested from BioMed Central.
This work is licensed under a Creative Commons Attribution 3.0 Unported License.
Citation Information
David G. Cox, Peter Kraft, Susan E. Hankinson and David J. Hunter. "Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer" Breast Cancer Research Vol. 7 (2004)
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