Polymorphism in xenobiotic and estrogen metabolizing genes, exposure to perfluorinated compounds and subsequent breast cancer risk: A nested case-control study in the Danish National Birth Cohort

Ghisari, Mandana; Long, Manhai; Røge, Durita Mohr; Olsen, Jørn; Bonefeld-Jörgensen, Eva Cecilie

doi:10.1016/j.envres.2017.01.020

Cited by 32 publications

(20 citation statements)

References 52 publications

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“…In particular, the median level of PFOS in Inuits was 18.2 ng/mL, similar to the level in the E3N study (17.3 ng/mL) [21]. Effect modification by polymorphisms in genes involved in estrogen metabolism such as CYP17A1 -34T/C (rs743572) and COMT Val158Met (rs4680) has been proposed [42,43]; however, the modifying effects of these polymorphisms were not consistent across PFAS compounds or across studies, and frequencies of alleles potentially associated with increased susceptibility to PFASs among Inuits [42] were only slightly higher (rs4680 Met allele) or even lower (rs743572 T allele) in Inuits than in European women [42,44]. Taken together, findings from these studies and our own study suggest that PFAS compounds do not substantially increase breast cancer risk or MD, at least in postmenopausal women.…”

Section: Discussionsupporting

confidence: 70%

Serum Levels of Commonly Detected Persistent Organic Pollutants and Per- and Polyfluoroalkyl Substances (PFASs) and Mammographic Density in Postmenopausal Women

Lee

Kinninger

Ursin

et al. 2020

IJERPH

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There are little epidemiological data on the impact of persistent organic pollutants (POPs) and endocrine disruptors on mammographic density (MD), a strong predictor of breast cancer. We assessed MD in 116 non-Hispanic white post-menopausal women for whom serum concentrations of 23 commonly detected chemicals including 3 polybrominated diphenyl ethers (PBDEs), 8 per-and polyfluoroalkyl substances (PFASs), and 12 polychlorinated biphenyls (PCBs) had been measured. Linear regression analyses adjusting for potential confounders were used to examine the associations between the levels of the chemical compounds, modeled as continuous and dichotomized (above/below median) variables, and square-root-transformed MD. None of the associations were statistically significant after correcting for multiple testing. Prior to correction for multiple testing, all chemicals with un-corrected p-values < 0.05 had regression coefficients less than zero, suggesting inverse associations between increased levels and MD, if any. The smallest p-value was observed for PCB-153 (regression coefficient for above-median vs. below-median levels: −0.87, un-corrected p = 0.008). Neither parity nor body mass index modified the associations. Our results do not support an association between higher MD and serum levels of PBDEs, PCBs, or PFASs commonly detected in postmenopausal women.

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Section: Discussionsupporting

confidence: 70%

Serum Levels of Commonly Detected Persistent Organic Pollutants and Per- and Polyfluoroalkyl Substances (PFASs) and Mammographic Density in Postmenopausal Women

Lee

Kinninger

Ursin

et al. 2020

IJERPH

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“…). Several SNPs in these genes together with SNPs in CYP1A1 , CYP1A2 , CYP1B1 , CYP3A4 and COMT , being involved in the further metabolism, have been evaluated for their association with breast cancer . However, the results are inconclusive due to differences in study population, heterogeneous breast cancer aetiology and small sample sizes.…”

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confidence: 99%

“…Some of the CYP genes are responsible for oxidative metabolism of numerous drugs and environmental chemicals, in addition to metabolism of oestrogen . Interactions between SNPs in the CYP enzymes and several exposures were studied in relation to breast cancer risk, including exposures such as hormone replacement therapy , ingestion of grilled/smoked meat and exposure to persistent organic pollutants (POPs) . Several studies have reported an effect modification of Ile462Val in CYP1A1 on the association between polychlorinated biphenyls (PCBs) and breast cancer risk , even though the association between breast cancer and these two factors independently is inconsistent .…”

mentioning

confidence: 99%

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk – A Greenlandic Case–Control Study

Wielsøe

Eiberg

Ghisari

et al. 2018

Basic Clin Pharma Tox

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This study investigated the effects of single nucleotide polymorphisms (SNPs) in xenobiotic and steroid hormone-metabolizing genes in relation to breast cancer risk and explored possible effect modifications on persistent organic pollutants (POPs) and breast cancer associations. The study also assessed effects of Greenlandic BRCA1 founder mutations. Greenlandic Inuit women (77 cases and 84 controls) were included. We determined two founder mutations in BRCA1: Cys39Gly (rs80357164) and 4684delCC, and five SNPs in xenobiotic and oestrogen-metabolizing genes: CYP17A1 -34T>C (rs743572), CYP19A1 *19C>T (rs10046), CYP1A1 Ile462Val (rs1048943), CYP1B Leu432Val (rs1056836) and COMT Val158Met (rs4680). We used chi-square test for comparison of categorical variables between groups. Odds ratio (OR) estimates with 95% confidence interval (95%CI) were obtained using logistic regression models. The variant allele of BRCA1 Cys39Gly increased breast cancer risk (Gly/Cys versus Cys/Cys, OR: 12.2, 95%CI: 1.53; 98.1), and carriers of the variant allele of CYP17A1 -34T>C had reduced risk (CT+CC versus TT, OR: 0.44, 95%CI: 0.21; 0.93). CYP17A1 -34T>C was an effect modifier on the association between perfluoroalkyl acids (PFAAs) and breast cancer risk (∑PFAA, ratio of OR: 0.18, 95%CI: 0.03; 0.97). Non-significant modifying tendencies were seen for the other SNPs on the effect of polychlorinated biphenyls, organochlorine pesticides and PFAAs. In summary, the BRCA1 Cys39Gly and CYP17A1 -34T>C genetic variations were associated with breast cancer risk. Our results indicate that the evaluated genetic variants modify the effects of POP exposure on breast cancer risk; however, further studies are needed to document the data from the relatively small sample size.

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“…Other genes have been studied in both African and European continents and revealed to be associated with BC, such as CHEK2 [ 52 , 65 , 73 – 75 ], TP53 [ 73 , 76 , 77 ], MTHFR [ 78 ], PALB2 [ 79 – 81 ]. Whereas, other genes have been proved involved in BC development solely in Africa such as APOBEC3A, APOBEC3B, ARID1B, NCOR1, SMAD4, MAP3K1, HER2, HER and RAD50 or only in Europe such as RAD51 [ 82 – 84 ], COMT [ 85 , 86 ], CYP17 [ 86 ], MRE11A [ 61 , 87 ], CYP19 [ 87 ] and MDM2 [ 88 ].…”

Section: Discussionmentioning

confidence: 99%

Genetics of breast cancer in African populations: a literature review

Abbad

Baba

Dehbi

et al. 2018

Glob. Health Epidemiol.

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Breast cancer (BC) is one of the most complex, diverse and leading cause of death in women worldwide. The present investigation aims to explore genes panel associated with BC in different African regions, and compare them to those studied worldwide.We extracted relevant information from 43 studies performed in Africa using the following criteria: case-control study, association between genetic variations and BC risk. Data were provided on mutations and polymorphisms associated with BC without fixing a specific date. Case-only studies and clinical trials were excluded.Our study revealed that the majority of African BC genetic studies remain restricted to the investigation of BRCA1 and BRCA2 genes and differences in their mutations spectrum. Therefore, it is necessary to encourage African researchers to characterize more genes involved in BC using methods generating global information such as next-generation sequencing in order to guide specific and more effective therapeutic strategies for the African community.

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Polymorphism in xenobiotic and estrogen metabolizing genes, exposure to perfluorinated compounds and subsequent breast cancer risk: A nested case-control study in the Danish National Birth Cohort

Cited by 32 publications

References 52 publications

Serum Levels of Commonly Detected Persistent Organic Pollutants and Per- and Polyfluoroalkyl Substances (PFASs) and Mammographic Density in Postmenopausal Women

Serum Levels of Commonly Detected Persistent Organic Pollutants and Per- and Polyfluoroalkyl Substances (PFASs) and Mammographic Density in Postmenopausal Women

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk – A Greenlandic Case–Control Study

Genetics of breast cancer in African populations: a literature review

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