Genetic Variants in Hormone-Related Genes and Risk of Breast Cancer

Tess Clendenen, Anne Zeleniuch-Jacquotte, Isaac Wirgin, Karen L. Koenig, Yelena Afanasyeva, Eva Lundin, Alan A. Arslan, Tomas Axelsson, Asta Försti, Göran Hallmans, Kari Hemminki, Per Lenner, Nirmal Roy, Roy E. Shore, Yu Chen

Research output: Contribution to journalArticlepeer-review


Sex hormones play a key role in the development of breast cancer. Certain polymorphic variants (SNPs and repeat polymorphisms) in hormone-related genes are associated with sex hormone levels. However, the relationship observed between these genetic variants and breast cancer risk has been inconsistent. We conducted a case-control study nested within two prospective cohorts to assess the relationship between specific genetic variants in hormone-related genes and breast cancer risk. In total, 1164 cases and 2111 individually-matched controls were included in the study. We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. Our results suggest that these genetic variants do not have a strong effect on breast cancer risk.

Original languageEnglish (US)
Article numbere69367
JournalPloS one
Issue number7
StatePublished - Jul 23 2013

ASJC Scopus subject areas

  • General


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