<i>HSD17B1</i> and <i>CYP17</i> polymorphisms and breast cancer risk among Chinese women in Singapore

Wu, Anna H.; Seow, Adeline; Arakawa, Kazuko; Berg, David Van Den; Lee, Hin-Peng; Yu, Mimi C.

doi:10.1002/ijc.10957

Cited by 62 publications

(71 citation statements)

References 27 publications

(39 reference statements)

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“…Due to individual differences in exposure to factors modifying genetic levels of E 2 , however, a relationship between CYP17 genetic polymorphism and risk of breast cancer may not be detectable. Several studies tested the relationship between CYP17 polymorphism and risk of breast cancer (23,37,42,(49)(50)(51)(52)(53)(54)(55)(56)(57)(58)(59), but results are conflicting.…”

Section: Discussionmentioning

confidence: 99%

CYP17Genotypes Differ in Salivary 17-β Estradiol Levels: A Study Based on Hormonal Profiles from Entire Menstrual Cycles

Jasieńska¹,

Kapiszewska

Ellison

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Variation in the levels of sex-steroid hormones results from differences in developmental conditions, adult lifestyle, and genetic polymorphism. Genes involved in sex-steroid biosynthesis have been implicated to influence levels of hormones in premenopausal women, but the results were inconclusive. We tested variation among women in levels of salivary estradiol (E 2 ) corresponding to CYP17 genotypes. CYP17 encodes cytochrome P450c17A, which mediates two enzymes important in E 2 synthesis. In contrast to the earlier studies that relied on one or a few samples for assessing the E 2 levels of an individual woman, our study is based on daily collected saliva samples for one entire menstrual cycle. Sixty Polish women, ages 24 to 36 years, with regular menstrual cycles and no reported fertility problems participated in the study. Women with A2/A2 genotype had 54% higher mean E 2 levels than women with A1/A1 genotype (P = 0.0001) and 37% higher than women with A1/A2 genotype (P = 0.0008). Heterozygous A1/A2 women had 13 % higher E 2 levels than homozygous A1/A1 women (but this difference was significant only in a nonparametric test). Levels of E 2 during the day with highest E 2 (day À1) were 72% higher in A2/A2 compared with A1/A1 (P = 0.01) and 52 % higher compared with A1/A2 (P = 0.03). Our results suggest that CYP17 genotype may serve as a biomarker of endocrine function in women of reproductive age. (Cancer Epidemiol Biomarkers Prev 2006;15(11):2131 -5)

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Section: Discussionmentioning

confidence: 99%

CYP17Genotypes Differ in Salivary 17-β Estradiol Levels: A Study Based on Hormonal Profiles from Entire Menstrual Cycles

Jasieńska¹,

Kapiszewska

Ellison

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…While previous studies have evaluated whether germline variation in HSD17B1 is associated with breast or endometrial cancer [33][34][35][36], this is the first large prospective study to assess HSD17B1 in relation to prostate cancer among men from several ethnicities. Table 1 shows demographic and other characteristics of cases and controls from the seven cohorts.…”

Section: Synopsismentioning

confidence: 99%

Genetic variation in the HSD17B1 gene and risk of prostate cancer

Kraft¹,

Hayes²,

Pharoah³

et al. 2005

PLoS Genet

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Steroid hormones are believed to play an important role in prostate carcinogenesis, but epidemiological evidence linking prostate cancer and steroid hormone genes has been inconclusive, in part due to small sample sizes or incomplete characterization of genetic variation at the locus of interest. Here we report on the results of a comprehensive study of the association between HSD17B1 and prostate cancer by the Breast and Prostate Cancer Cohort Consortium, a large collaborative study. HSD17B1 encodes 17b-hydroxysteroid dehydrogenase 1, an enzyme that converts dihydroepiandrosterone to the testosterone precursor D5-androsterone-3b,17b-diol and converts estrone to estradiol. The Breast and Prostate Cancer Cohort Consortium researchers systematically characterized variation in HSD17B1 by targeted resequencing and dense genotyping; selected haplotype-tagging single nucleotide polymorphisms (htSNPs) that efficiently predict common variants in U.S. and European whites, Latinos, Japanese Americans, and Native Hawaiians; and genotyped these htSNPs in 8,290 prostate cancer cases and 9,367 study-, age-, and ethnicity-matched controls. We found no evidence that HSD17B1 htSNPs (including the nonsynonymous coding SNP S312G) or htSNP haplotypes were associated with risk of prostate cancer or tumor stage in the pooled multiethnic sample or in U.S. and European whites. Analyses stratified by age, body mass index, and family history of disease found no subgroup-specific associations between these HSD17B1 htSNPs and prostate cancer. We found significant evidence of heterogeneity in associations between HSD17B1 haplotypes and prostate cancer across ethnicity: one haplotype had a significant (p , 0.002) inverse association with risk of prostate cancer in Latinos and Japanese Americans but showed no evidence of association in African Americans, Native Hawaiians, or whites. However, the smaller numbers of Latinos and Japanese Americans in this study makes these subgroup analyses less reliable. These results suggest that the germline variants in HSD17B1 characterized by these htSNPs do not substantially influence the risk of prostate cancer in U.S. and European whites.Citation: Kraft P, Pharoah P, Chanock SJ, Albanes D, Kolonel LN, et al. (2005) Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet 1(5): e68.

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“…In a study conducted in Singapore, a 1.8-fold increased risk of breast cancer was found for postmenopausal Chinese women with the AA genotype (15). However, in a pooled analysis of 5,370 cases and 7,480 matched controls from the Breast and Prostate Cancer Cohort Consortium, the majority of whom were Caucasian, none of the common HSD17B1 haplotypes defined by four haplotype-tagging single nucleotide polymorphisms (including rs605059) were associated with breast cancer risk (21).…”

Section: Introductionmentioning

confidence: 99%

“…Although most studies have found no overall relationship (9,10), some studies of non-Caucasian women have found breast cancer risk associated with this polymorphism to vary by age or menopausal status (11)(12)(13)(14), body mass index (BMI; ref. 13), and age at first birth and parity combined (15). Furthermore, although in vitro data have not confirmed that the additional Sp-1 binding site leads to increased gene transcription (16), higher endogenous levels of estrogens and androgens have been reported in carriers (versus noncarriers) of the A2 allele (17).…”

Section: Introductionmentioning

confidence: 99%

“…The results from studies of HSD17B1 variation examining a single nucleotide polymorphism in exon 6 (rs605059), known to produce an amino acid change from serine to glycine at position 312, are also somewhat inconsistent (15,(18)(19)(20)(21). In a study conducted in Singapore, a 1.8-fold increased risk of breast cancer was found for postmenopausal Chinese women with the AA genotype (15).…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms in Steroid Hormone Biosynthesis Genes and Risk of Breast Cancer and Fibrocystic Breast Conditions in Chinese Women

Sakoda

Blackston

Doherty³

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Common variants in genes encoding for key enzymes involved in steroidogenesis may alter sex steroid hormone levels, thereby influencing susceptibility to breast carcinoma and related conditions. In a casecontrol study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAAAA) n ] repeat (D15S520), CYP17A1 rs743572, and HSD17B1 rs605059 polymorphisms in relation to the risk of breast cancer and fibrocystic breast conditions, comparing 615 women with breast cancer and 467 women with fibrocystic breast conditions separately with 879 women without clinical breast disease. We also evaluated whether these relationships differed by the presence of proliferation in the extratumoral epithelium or fibrocystic lesions, menopausal status, or body mass index. Only CYP11A1 genotype was related to breast cancer risk, with women homozygous for the 4-repeat allele, relative to those homozygous for the 6-repeat allele, at reduced risk (age-adjusted odds ratio, 0.58; 95% confidence interval, 0.37-0.91). There was some suggestion of a stronger inverse association for breast cancer with evidence of proliferation in the extratumoral epithelium than for breast cancer without extratumoral proliferation. Breast cancer risk associated with CYP11A1 genotype did not differ by menopausal status or body mass index level. No associations between CYP11A1, CYP17A1, and HSD17B1 genotypes and risk of fibrocystic breast conditions were observed. Our findings support the possibility that common allelic variation at the CYP11A1 D15S520 locus alters breast cancer risk in Chinese women. (Cancer Epidemiol Biomarkers Prev 2008;17(5):1066 -73)

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HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore

Cited by 62 publications

References 27 publications

CYP17Genotypes Differ in Salivary 17-β Estradiol Levels: A Study Based on Hormonal Profiles from Entire Menstrual Cycles

CYP17Genotypes Differ in Salivary 17-β Estradiol Levels: A Study Based on Hormonal Profiles from Entire Menstrual Cycles

Genetic variation in the HSD17B1 gene and risk of prostate cancer

Polymorphisms in Steroid Hormone Biosynthesis Genes and Risk of Breast Cancer and Fibrocystic Breast Conditions in Chinese Women

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