Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India

Chattopadhyay, Shilpi; Siddiqui, Sarah; Akhtar, Md. Salman; Najm, Mohammad Zeeshan; Deo, S. V. S.; Shukla, Nootan Kumar; Husain, Syed Akhtar

doi:10.1007/s13277-013-1594-1

Cited by 46 publications

(28 citation statements)

References 44 publications

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“…In a stratified analysis by menopausal status, the association between the rs10046 C allele and BC was more evident in premenopausal women than postmenopausal women. Chattopadhyay et al (2014) previously observed that rs700519 had a significant association with BC risk in North Indian women, which was strongly affected by menopausal status. Sun et al (2015) also reported that rs700519 is associated with susceptibility to BC among the Han Chinese population.…”

Section: Discussionmentioning

confidence: 92%

Genetic polymorphisms and haplotype of hormone-related genes are associated with the risk of breast cancer in Chinese women

Pan¹,

Song³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Sex hormones play important roles in breast cancer (BC) development. This study investigated associations between BC risk and hormone-related gene variants in Chinese women. In a cohort of 336 patients with histopathologically confirmed BC and 390 age-matched controls, we genotyped seven single nucleotide polymorphisms (SNPs) in five hormone-related genes: estrogen receptor-α (ESR1), aromatase (CYP19), catechol-O-methyl transferase (COMT), sex hormonebinding globulin (SHBG), and glutathione S-transferase (GSTP1). Among these seven SNPs, the SNPs in GSTP1 rs1695 [A/G; odds ratio (OR): 1.68; 95% confidence interval (CI): 1.23-2.30] and ESR1 rs2046210 (C/T; OR: 1.39; 95%CI = 1.02-1.91) were associated with an increased risk among heterozygote carriers. Homozygotes of minor alleles of CYP19 rs10046 (CC) were associated with a reduced risk of BC with OR: 0.61 (95%CI = 0.39-0.95). In addition, a stratified analysis by menopausal status indicated that the association of the CYP19 polymorphisms (rs10046 and rs700519) with BC risk was mainly evident in premenopausal women, and the association of CYP19 rs700519 with BC risk was significant in women less than 50 years old. Haplotype analysis identified 15 common haplotypes (>1%). The haplotype TGGGGTC was significantly associated with BC risk compared with the reference haplotype CGAGGTC (OR > 1000, P < 0.0001). Our data demonstrate that these ESR1, GSTP1, and CYP19 polymorphisms are associated with risk of BC, and the risk haplotype TGGGGTC could help to identify populations with high susceptibility to BC in Chinese women.

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Section: Discussionmentioning

confidence: 92%

Genetic polymorphisms and haplotype of hormone-related genes are associated with the risk of breast cancer in Chinese women

Pan¹,

Song³

et al. 2016

Genet. Mol. Res.

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“…Most recently, Chattopadhyay et al [71] reported significant associations between SNPs in ERα (rs2234693), ERβ (rs2987983), CYP17A1 (rs743572) and CYP19A1 (rs700519) and breast cancer risk in a case control study performed in North India. The study included 360 cases with corresponding controls matched on age, sex, ethnicity, and geographical location.…”

Section: Role Of Genetic Variation In Estrogen Metabolismmentioning

confidence: 99%

Estrogen metabolism and breast cancer

2015

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There is currently accumulating evidence that endogenous estrogens play a critical role in the development of breast cancer. Estrogens and their metabolites have been studied in both pre- and postmenopausal women with more consistent results shown in the latter population, in part because of large hormonal variations during the menstrual cycle and far fewer studies having been performed in premenopausal women. In this review we describe in detail estrogen metabolism and associated genetic variations, and provide a critical review of the current literature regarding the role of estrogens and their metabolites in breast cancer risk.

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“…Many studies have evaluated the association between SNPs in estrogen-related genes, such as CYP17 , CYP19 , CYP1A1 , CYP1B1 , COMT , GSTP1 , and ER α/β, and the risk of breast cancer, especially in postmenopausal women [14,15,16,17,18,19,20,21]. Polymorphisms in these genes have been reported to affect the regulation, transcription, and activity of the enzymes, as well as subsequent exposure to endogenous estrogen and the development of breast cancer [14].…”

Section: Introductionmentioning

confidence: 99%

Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women

Sun

Zhu

et al. 2015

IJMS

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Exposure to high levels of estrogen is considered an important risk factor for susceptibility to breast cancer. Common polymorphisms in genes that affect estrogen levels may be associated with breast cancer risk, but no comprehensive study has been performed among Han Chinese women. In the present study, 32 single-nucleotide polymorphisms (SNPs) in estrogen-related genes were genotyped using the MassARRAY IPLEX platform in 1076 Han Chinese women. Genotypic and allelic frequencies were compared between case and control groups. Unconditional logistic regression was used to assess the effects of SNPs on breast cancer risk. Associations were also evaluated for breast cancer subtypes stratified by estrogen receptor (ER) and progesterone receptor (PR) status. Case-control analysis showed a significant relation between heterozygous genotypes of rs700519 and rs2069522 and breast cancer risk (OR = 0.723, 95% CI = 0.541–0.965, p = 0.028 and OR = 1.500, 95% CI = 1.078–2.087, p = 0.016, respectively). Subgroup comparisons revealed that rs2446405 and rs17268974 were related to ER status, and rs130021 was associated with PR status. Our findings suggest that rs700519 and rs2069522 are associated with susceptibility to breast cancer among the Han Chinese population and have a cumulative effect with three other identified SNPs. Further genetic and functional studies are needed to identify additional SNPs, and to elucidate the underlying molecular mechanisms.

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Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India

Cited by 46 publications

References 44 publications

Genetic polymorphisms and haplotype of hormone-related genes are associated with the risk of breast cancer in Chinese women

Genetic polymorphisms and haplotype of hormone-related genes are associated with the risk of breast cancer in Chinese women

Estrogen metabolism and breast cancer

Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women

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