Department of Population Health, New York University School of Medicine, New York, New York, United States of America.
PLoS One. 2013 Jul 23;8(7):e69367. doi: 10.1371/journal.pone.0069367. Print 2013.
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.
性激素在乳腺癌的发展中起着关键作用。与激素相关的基因中的某些多态性变异（SNP 和重复多态性）与性激素水平有关。然而，观察到这些遗传变异与乳腺癌风险之间的关系并不一致。我们进行了一项病例对照研究，该研究嵌套在两个前瞻性队列中，以评估与激素相关基因中的特定遗传变异与乳腺癌风险之间的关系。共有 1164 例病例和 2111 例个体匹配对照纳入了该研究。我们没有观察到雌激素途径中的潜在功能性遗传多态性、SHBG rs6259、ESR1 rs2234693、CYP19 rs10046 和 rs4775936 以及 UGT1A1 rs8175347，或孕激素途径中的 PGR rs1042838 与乳腺癌风险之间存在关联。我们的结果表明，这些遗传变异对乳腺癌风险的影响不大。
