Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women

Martínez-Ramírez, Ollin Celeste; Pérez‐Morales, Rebeca; Castro, Clementina; Díaz, Adriana Carolina Flores; Soto-Cruz, K.E.; Astorga-Ramos, Alma Magdalena; Gonsebatt, María E.; Casas, Leonora; Valdés-Flores, Margarita; Rubio, Julieta

doi:10.1016/j.breast.2012.08.004

Cited by 34 publications

(21 citation statements)

References 66 publications

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“…In the only previous related study carried out in Mexico, GSTP1 polymorphisms were associated with an increased breast cancer risk; no association was observed for GSTM1 and GSTT1 (Martínez-Ramírez et al, 2013). The differences between this study and our results are likely related to ethnicity and methodological factors.…”

Section: Discussioncontrasting

confidence: 56%

“…In Mexico, only one related study has been carried out, in which subjects in the country's central zone were analyzed (Martínez-Ramírez et al, 2013). Thus, the purpose of this study was to investigate the genotypic and allelic frequencies of polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 to determine whether an association exists between polymorphisms in these genes and the risk of breast cancer in subjects from northeastern Mexico.…”

Section: Introductionmentioning

confidence: 99%

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Short Communication Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico

et al. 2015

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ABSTRACT. Glutathione S-transferases (GSTs) are a family of phase II metabolizing enzymes involved in carcinogen detoxification and the metabolism of various bioactive compounds. Several genes that code for these enzymes are polymorphic in an ethnicity-dependent manner, with particular genotypes previously associated with an increased risk of breast cancer. The purpose of this study was to determine the frequencies of polymorphisms in the genes GSTM1, GSTT1, GSTP1, and GSTM3 and to investigate whether an association exists between these genes and breast cancer risk in subjects from northeastern Mexico. Genotypes were determined for 243 women with histologically confirmed breast cancer and 118 control subjects. Gene polymorphisms were analyzed using a DNA microarray. We found an increased breast cancer risk associated with the GSTM1 gene deletion polymorphism (OR = 2.19; 95%CI = 1.50-3.21; P = 0.001). No associations between the GSTT1, GSTP1, and GSTM3 genotypes and neoplasia risk were observed. In conclusion, we determined the genotype distribution of GST polymorphisms in control subjects and breast cancer patients from northeastern Mexico. The GSTM1 null genotype was associated with breast cancer risk. Our findings may be used to individualize breast cancer screening and therapeutic intervention in our population, which displays ethnic characteristics that differentiate it from other populations in Mexico.

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Section: Discussioncontrasting

confidence: 56%

Section: Introductionmentioning

confidence: 99%

Short Communication Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico

et al. 2015

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“…In the present study, we observed similar null GSTM1 genotype frequencies in our control group at those that had been previously reported in Mexico (Pérez-Morales et al, 2011;Martínez-Ramírez et al, 2013;Sandoval-Carrillo et al, 2014). The genotypic GSTM1 null frequencies were 38 and 45% in the control group and in patients with BC, respectively, suggesting an association of this allele as a risk factor in BC.…”

Section: Discussionsupporting

confidence: 91%

Association of the GSTM1 null polymorphism with breast cancer in a Mexican population

Soto-Quintana¹,

Zúñiga‐González²,

Ramírez-Patiño³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The glutathione S transferase (GST) family plays an important role in the processing of carcinogens. Data on the null GSTM1 genotype has revealed associations with cancer, and has been suggested to affect carcinogen metabolism and to contribute to tumor promotion in 13067 GSTM1 polymorphism in breast cancer ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 13066-13075 (2015) the mammary gland. We examined the role of the null GSTM1 genotype by comparing the genotypes of 276 healthy Mexican women with those of 558 Mexican women with breast cancer (BC). The genotype frequencies observed in the controls and patients with BC were 38 and 45% for the null GSTM1 genotype, respectively. The obtained odds ratio (OR) was 1.36, with a 95% confidence interval (95%CI) of 1.02-1.8, P = 0.04. The protective association was also evident upon analysis of the distributions of the null GSTM1 genotype in patients with positive chemotherapy response who had high plasma levels of glucose (OR 0.56, 95%CI = 0.33-0.94, P = 0.03). This study suggested that the null GSTM1 genotype is associated with BC susceptibility in the Mexican population analyzed.

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“…The single nucleotide polymorphism (SNP) G>A (rs4680) leads to an amino acid change of Val to Met in the position 108/158 in cytoplasmic/ membranous enzyme form, Submit your Manuscript | www.austinpublishinggroup.com respectively, and is generally known as Val158Met. This SNP has important (two-to fivefold) impact on the enzymatic activity as those individuals homozygous for the Val (GG) have high activity enzyme variant, those with Met/Met (AA) possess low activity protein and heterozygous genotype carriers (Val/Met, GA) have the enzyme form with intermediate activity [7,12,14,17,[19][20][21][22][23][24][25][26][27][28]. It means that alteration in the respective genotype leads to the change in efficacy of O-methylation of different endogenous and exogenous catecholic compounds (including for example catechol estrogens, but also flavonoids like quercetin, fisetin and different flavanols) and therefore also to the increased amounts of circulating catechols with significantly different bioactivities compared to their O-methylated metabolites.…”

Section: Discussionmentioning

confidence: 99%

“…We hypothesize that this genetic change may have some role in the pathogenesis (initiation and/or progression) of CLL. It is well known that hydroxylated intermediates of estradiol (2-and 4-hydroxylated estradiols) can be oxidated to highly reactive semiquinones and quinones which may induce DNA damage and cause therefore cancer development [15][16][17][18][19][20][21]25,[29][30][31][32]. These harmful effects are contravened by detoxification enzymes, mainly by COMT that catalyzes O-methylation of different catechols and facilitates their excretion from the body [14,20].…”

Section: Discussionmentioning

confidence: 99%

Change of COMT Val158Met Genotype in Tumoral B Cells of a Chronic Lymphocytic Leukemia Patient: A Case Report

Sak¹

2017

Ann Hematol Oncol

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In this case report, a Chronic lymphocytic leukemia (CLL) female patient with a heterozygous polymorphism in the catechol-O-methyltransferase (COMT) gene is described. This functional change in the COMT enzyme Val158Met leads to a decreased efficacy to O-methylate different endogenous and exogenous compounds containing catechol structure, including hydroxylated estradiol intermediates, catecholamines and certain dietary flavonoids. The specific change found in tumoral B-cells as compared to the genomic DNA from the non-B fraction of peripheral blood mononuclear cells of the patient, could indicate that Val158Met might play some role in the pathogenesis of CLL that certainly needs further investigations. The possible application of this polymorphism as a potential biomarker of CLL is also worth of further largescale case-control studies. Keywords: Biomarker; Catechol-O-methyltransferase; Chronic lymphocytic leukemia; O-methylation Case PresentationThe venous blood sample was taken from a 64-year-old woman within a regular check-up. The patient had a 7-year history of chronic lymphocytic leukemia (B-CLL; Rai stage 1 and Binet stage A disease) and her hematological status was stable. As patient did not have any B symptoms, anemia or thrombocytopenia and she did not need any specific treatment according to the current CLL management approaches. Laboratorial findings revealed the white blood cell count (WBC) of 30x10 9 /L with lymphocyte count of 25x10 9 /L. Phenotype of the lymphocytes was determined as CD45+, CD19+, CD20+, CD5+, CD23+, CD43+, CD38-, FMC7-, CD79b-. Lymph nodes were observed only in cervical region with the diameter less than 1 cm. Fluorescence in situ hybridization revealed the presence of a monoallelic 13q deletion. The IGHV status of the patient as well as the expression of ZAP70 was not studied.Peripheral blood mononuclear cells (PBMCs) were further separated from the whole blood sample using a density gradient technique (Ficoll-Paque TM Premium, GE Healthcare). B cells were isolated from PBMCs by the human B-CLL Cell Isolation Kit from MACS Miltenyi Biotec. DNA was separated from whole blood sample, B cells and non-B fraction of PBMCs using QIAamp DNA Mini Kit (Qiagen) and the respective concentrations were determined by NanoDrop 2000C spectrophotometer (Thermo Scientific). Because of the recent increasing interest in possible role of phase II enzymes and their genetic variants in carcinogenesis [1], the fourth exon of catechol-O-methyltransferase (COMT) gene was amplified by polymerase chain reaction (PCR) and the COMT Val158Met (rs4680, G>A) genotype was determined by restriction analysis using FastDigest NIaIII (Hin1II, Thermo Scientific) as the restriction enzyme. Standard gel picture of three different genotypes Special Article -Acute and Chronic Myeloid Leukemia

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Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women

Cited by 34 publications

References 66 publications

Short Communication Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico

Short Communication Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico

Association of the GSTM1 null polymorphism with breast cancer in a Mexican population

Change of COMT Val158Met Genotype in Tumoral B Cells of a Chronic Lymphocytic Leukemia Patient: A Case Report

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