Research article

The progesterone receptor Val660→Leu polymorphism and breast cancer risk

Immaculata De Vivo^1,2,3 , Susan E Hankinson^1,2, Graham A Colditz^1,2,4 and David J Hunter^1,2,3,4

¹  Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA

²  Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA

³  Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, USA

⁴  Department of Nutrition, Harvard School of Public Health, Boston, MA, USA

author email corresponding author email

Breast Cancer Res 2004, 6:R636-R639doi:10.1186/bcr928

Published:	22 September 2004

Abstract

Background

Recent evidence suggests a role for progesterone in breast cancer development and tumorigenesis. Progesterone exerts its effect on target cells by interacting with its receptor; thus, genetic variations, which might cause alterations in the biological function in the progesterone receptor (PGR), can potentially contribute to an individual's susceptibility to breast cancer. It has been reported that the PROGINS allele, which is in complete linkage disequilibrium with a missense substitution in exon 4 (G/T, valine→leucine, at codon 660), is associated with a decreased risk for breast cancer.

Methods

Using a nested case-control study design within the Nurses' Health Study cohort, we genotyped 1252 cases and 1660 matched controls with the use of the Taqman assay.

Results

We did not observe any association of breast cancer risk with carrying the G/T (Val660→Leu) polymorphism (odds ratio 1.10, 95% confidence interval 0.93–1.30). In addition, we did not observe an interaction between this allele and menopausal status and family history of breast cancer as reported previously.

Conclusion

Overall, our study does not support an association between the Val660→Leu PROGINS polymorphism and breast cancer risk.