Abstract
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.
Highlights
Epidemiological evidence indicates a key role for sex hormones in breast cancer development
Associations observed between genetic variants in sex-hormone related genes and breast cancer risk have generally been inconsistent [10,11], except for two single nucleotide polymorphisms (SNP) near the ESR1 gene that were significantly associated with risk in several genome wide association studies [12,13,14,15,16,17]
We assessed whether selected polymorphisms in genes that have been shown to be associated with sex hormone levels or hormone signaling are related to risk of breast cancer
Summary
Epidemiological evidence indicates a key role for sex hormones in breast cancer development. Established breast cancer risk factors, e.g., early age at menarche, nulliparity, late age at menopause, use of estrogen plus progestin hormone replacement therapy, and BMI among postmenopausal women, are thought to affect risk through modulation of sex hormones. Associations observed between genetic variants in sex-hormone related genes and breast cancer risk have generally been inconsistent [10,11], except for two single nucleotide polymorphisms (SNP) near the ESR1 gene (rs2046210 and rs12662670) that were significantly associated with risk in several genome wide association studies [12,13,14,15,16,17]. We assessed whether selected polymorphisms in genes that have been shown to be associated with sex hormone levels or hormone signaling are related to risk of breast cancer
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