Breast Cancer Research

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Open Access Highly Access Research article

Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer

Jingmei Li1,2*, Louise Eriksson1, Keith Humphreys1, Kamila Czene1, Jianjun Liu2, Rulla M Tamimi3,4, Sara Lindström5, David J Hunter3, Celine M Vachon6, Fergus J Couch7, Christopher G Scott6, Pagona Lagiou4,8 and Per Hall1

Author Affiliations

1 Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Box 281, 171 77 Stockholm, Sweden

2 Human Genetics, Genome Institute of Singapore, 60 Biopolis Street, Singapore 138672, Singapore

3 Channing Laboratory, Brigham and Women's Hospital, 181 Longwood Avenue, Boston, MA 02115, USA

4 Department of Epidemiology, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115, USA

5 Program in Genetic and Molecular Epidemiology, Department of Epidemiology, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115, USA

6 Department of Health Sciences Research, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA

7 Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA

8 Department of Hygiene, Epidemiology and Medical Statistics, University of Athens Medical School, 75 Mikras Asias Str, Goudi, Athens 115 27, Greece

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Breast Cancer Research 2010, 12:R19 doi:10.1186/bcr2488

Published: 9 March 2010

Additional files

Additional file 1:

Tables S1 to S3. Table S1 presents a list of SNPs in the androgen synthesis subpathway and their corresponding regression coefficients and likelihood ratio test P values. Table S2 presents a list of SNPs in the androgen to estrogen conversion subpathway and their corresponding regression coefficients and likelihood ratio test P values. Table S3 presents a list of SNPs in the estrogen removal subpathway and their corresponding regression coefficients and likelihood ratio test P values.

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Additional file 2:

Table S4. Table S4 presents genes containing polymorphisms within the estrogen metabolic pathway evaluated in relation to mammographic density.

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Additional file 3:

Table S5. Table S5 presents validation results of significantly associated SNPs in the Nurses' Health Study (NHS) and the Mayo Clinic Breast Cancer Study (MBCS).

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