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https://www.readbyqxmd.com/read/28636544/analysis-of-esr1-and-pik3ca-mutations-in-plasma-cell-free-dna-from-er-positive-breast-cancer-patients
#1
Takashi Takeshita, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Mai Tomiguchi, Aiko Sueta, Keiichi Murakami, Yoko Omoto, Hirotaka Iwase
BACKGROUND: The measurement of ESR1 and PIK3CA mutations in plasma cell-free DNA (cfDNA) has been studied as a non-invasive method to quickly assess and monitor endocrine therapy (ET) resistant metastatic breast cancer (MBC) patients. METHODS: The subjects of this retrospective study were a total of 185 plasma samples from 86 estrogen receptor-positive BC patients, of which 151 plasma samples were from 69 MBC patients and 34 plasma samples were from 17 primary BC (PBC) patients...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28631185/the-increased-expression-of-follicle-stimulating-hormone-leads-to-a-decrease-of-fecundity-in-transgenic-large-white-female-pigs
#2
Kai Jiang, Pan Xu, Wanbo Li, Qiang Yang, Longyun Li, Chuanmin Qiao, Huanfa Gong, Hao Zheng, Zhimin Zhou, Hao Fu, Qiuyan Li, Yuyun Xing, Jun Ren
Follicle-stimulating hormone (FSH) is a pituitary gonadotropin regulating reproduction in mammals. Overexpression of the exogenous FSHα/β genes from Chinese Erhualian pigs improved female fecundity of transgenic (TG) mice and male spermatogenesis ability of Large White TG boars. Here, we investigated the impact of the exogenous FSHα/β genes on female reproductive performance of Large White TG pigs. First, we identified the integration site of the exogenous FSHα/β genes at 140,646,456 bp on chromosome 9 in these TG pigs using whole-genome sequencing...
June 19, 2017: Transgenic Research
https://www.readbyqxmd.com/read/28627236/estrogen-receptor-1-esr1-gene-polymorphisms-and-obesity-phenotypes-in-a-population-of-young-adults
#3
María Correa-Rodríguez, Jacqueline Schmidt-RioValle, Emilio González-Jiménez, Blanca Rueda-Medina
Obesity is considered an increasingly serious health problem determined by multiple genetic and environmental factors. Estrogens have been found to play a major role in body weight and adiposity regulation through estrogen receptor 1 ( ESR1). The aim of this study was to determine whether genotype and haplotype frequencies of ESR1 polymorphisms are associated with body composition measures in a population of 572 young adults. A lack of significant association between genotypes of ESR1 gene polymorphisms and obesity phenotypes was seen after adjustment for confounding factors...
June 1, 2017: Clinical Nursing Research
https://www.readbyqxmd.com/read/28617822/intronic-snp-in-esr1-encoding-human-estrogen-receptor-alpha-is-associated-with-brain-esr1-mrna-isoform-expression-and-behavioral-traits
#4
Julia K Pinsonneault, John T Frater, Benjamin Kompa, Roshan Mascarenhas, Danxin Wang, Wolfgang Sadee
Genetic variants of ESR1 have been implicated in multiple diseases, including behavioral disorders, but causative variants remain uncertain. We have searched for regulatory variants affecting ESR1 expression in human brain, measuring allelic ESR1 mRNA expression in human brain tissues with marker SNPs in exon4 representing ESR1-008 (or ESRα-36), and in the 3'UTR of ESR1-203, two main ESR1 isoforms in brain. In prefrontal cortex from subjects with bipolar disorder, schizophrenia, and controls (n = 35 each; Stanley Foundation brain bank), allelic ESR1 mRNA ratios deviated from unity up to tenfold at the exon4 marker SNP, with large allelic ratios observed primarily in bipolar and schizophrenic subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28614058/egr1-regulates-cellular-metabolism-and-survival-in-endocrine-resistant-breast-cancer
#5
Ayesha N Shajahan-Haq, Simina M Boca, Lu Jin, Krithika Bhuvaneshwar, Yuriy Gusev, Amrita K Cheema, Diane D Demas, Kristopher S Raghavan, Ryan Michalek, Subha Madhavan, Robert Clarke
About 70% of all breast cancers are estrogen receptor alpha positive (ER+; ESR1). Many are treated with antiestrogens. Unfortunately, de novo and acquired resistance to antiestrogens is common but the underlying mechanisms remain unclear. Since growth of cancer cells is dependent on adequate energy and metabolites, the metabolomic profile of endocrine resistant breast cancers likely contains features that are deterministic of cell fate. Thus, we integrated data from metabolomic and transcriptomic analyses of ER+ MCF7-derived breast cancer cells that are antiestrogen sensitive (LCC1) or resistant (LCC9) that resulted in a gene-metabolite network associated with EGR1 (early growth response 1)...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28592202/pharmacogenetics-and-aromatase-inhibitor-induced-side-effects-in-breast-cancer-patients
#6
Valentina Sini, Andrea Botticelli, Gianluigi Lunardi, Stefania Gori, Paolo Marchetti
This paper reviews genetic variations mainly related to the onset of adverse events during aromatase inhibitors in early breast cancer. Genetic variability could occur at different steps. The analysis included studies that involved breast cancer patients, treated with an aromatase inhibitor, genotyped for CYP19A1 and/or CYP17A1 and/or CYP27B1 and/or TCLA1, and/or RANK/RANKL/OPG and/or ESR1/ESR2, and assessed for toxicity profile. Twenty-two articles were included for the analysis. Three studies evaluated outcomes and adverse events; 19 studies assessed only side effects...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28589903/tumor-biomarker-conversion-between-primary-and-metastatic-breast-cancer-mrna-assessment-and-its-concordance-with-immunohistochemistry
#7
Stefan Stefanovic, Ralph Wirtz, Thomas M Deutsch, Andreas Hartkopf, Peter Sinn, Zsuzsanna Varga, Bettina Sobottka, Lakis Sotiris, Florin-Andrei Taran, Christoph Domschke, Andre Hennigs, Sara Y Brucker, Christof Sohn, Florian Schuetz, Andreas Schneeweiss, Markus Wallwiener
Biomarker changes between primary (PT) and metastatic tumor (MT) site may be significant in individualizing treatment strategies and can result from actual clonal evolution, biomarker conversion, or technical limitations of diagnostic tests.This study explored biomarker conversion during breast cancer (BC) progression in 67 patients with different tumor subtypes and metastatic sites via mRNA quantification and subsequently analyzed the concordance between real-time qPCR and immunohistochemistry (IHC). Immunostaining for estrogen receptor (ER), progesterone receptor (PR), HER2, and Ki-67 was performed on formalin-fixed, paraffin-embedded PT and MT tissue sections...
May 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28585928/predicting-attention-deficit-hyperactivity-disorder-severity-from-psychosocial-stress-and-stress-response-genes-a-random-forest-regression-approach
#8
D van der Meer, P J Hoekstra, M van Donkelaar, J Bralten, J Oosterlaan, D Heslenfeld, S V Faraone, B Franke, J K Buitelaar, C A Hartman
Identifying genetic variants contributing to attention-deficit/hyperactivity disorder (ADHD) is complicated by the involvement of numerous common genetic variants with small effects, interacting with each other as well as with environmental factors, such as stress exposure. Random forest regression is well suited to explore this complexity, as it allows for the analysis of many predictors simultaneously, taking into account any higher-order interactions among them. Using random forest regression, we predicted ADHD severity, measured by Conners' Parent Rating Scales, from 686 adolescents and young adults (of which 281 were diagnosed with ADHD)...
June 6, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28580595/mutation-screening-of-10-cancer-susceptibility-genes-in-unselected-breast-cancer-patients
#9
Yueliang Xie, Li Guoli, Ming Chen, Xinwu Guo, Lili Tang, Xipeng Luo, Shouman Wang, Wenjun Yi, Lizhong Dai, Jun Wang
Variants of cancer susceptibility genes other than BRCA1/2 have been proved to be associated with increased risks of breast cancer. This study was performed to investigate the spectrum and prevalence of mutations in 10 cancer susceptibility genes in paired tumor/normal tissues of 292 unselected Chinese breast cancer patients. We performed an analysis of germline and somatic variants in ATM, CDH1, CHEK2, ESR1, GATA3, MAP3K1, MSH2, PALB2, RB1 and STK11 genes by integrating microfluidic PCR-based target enrichment and next-generation sequencing technologies...
June 5, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28578502/promotor-analysis-of-esr1-in-endometrial-cancer-cell-lines-endometrial-and-endometriotic-tissue
#10
Vanessa Toderow, Martina Rahmeh, Simone Hofmann, Verena Kirn, Sven Mahner, Udo Jeschke, Viktoria von Schönfeldt
PURPOSE: The nuclear hormone receptor estrogen receptor α (ERα) is pivotal for numerous processes in the cell. As a transcription factor, it regulates eukaryotic gene expression and affects cellular proliferation and differentiation in target tissues. Moreover, ERα is known for its influence on various gynecological diseases and carcinogenesis. Since its expression is often altered in diseased tissues and this alteration was found to be caused by hypermethylation of the ESR1 promotor region in cancer, including breast and colorectal cancer, the aim of this study is to elucidate if the expression of ERα is also regulated epigenetically in endometriosis and endometrial cancer...
June 3, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28560446/prediction-of-marker-genes-associated-with-hypertension-by-bioinformatics-analyses
#11
Yuan Gao, Guo-Xian Qi, Zhi-Mei Jia, Ying-Xian Sun
This study aimed to explore the underlying marker genes associated with hypertension by bioinformatics analyses. A gene expression profile (GSE54015) was downloaded. The differentially expressed genes (DEGs) between the normotensive female (NF) and hypertensive female (HF), and between the normotensive male (NM) and hypertensive male (HM) groups were analyzed. Gene Ontology (GO) and pathway enrichment analyses were performed, followed by protein-protein interaction (PPI) network construction. The transcription factors (TFs), and the common DEGs between the HF and HM groups were then analyzed...
May 25, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28560409/construction-of-disease-specific-transcriptional-regulatory-networks-identifies-co-activation-of-four-gene-in-esophageal-squamous-cell-carcinoma
#12
Yu Zhao, Li Min, Changqin Xu, Linlin Shao, Shuilong Guo, Rui Cheng, Jie Xing, Shengtao Zhu, Shutian Zhang
Even though various molecules may serve as biomarkers, little is known concerning the mechanisms underlying the carcinogenesis of ESCC, particularly the transcriptional regulatory network. Thus, in the present study, paired ESCC and non-cancerous (NC) tissues were assayed by Affymetrix microarray assays. Passing Attributes between Networks for Data Assimilation (PANDA) was used to construct networks between transcription factors (TFs) and their targets. AnaPANDA program was applied to compare the regulatory networks...
May 30, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28546519/association-of-three-single-nucleotide-polymorphisms-of-esr1-with-breast-cancer-susceptibility-a-meta-analysis
#13
Xu Hu, Linfei Jiang, Chenhui Tang, Yuehong Ju, Li Jiu, Yongyue Wei, Guo Li, Zhao Yang
Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants of ESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms of ESR1), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype...
April 6, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28539434/estrogens-in-male-physiology
#14
REVIEW
Paul S Cooke, Manjunatha K Nanjappa, CheMyong Ko, Gail S Prins, Rex A Hess
Estrogens have historically been associated with female reproduction, but work over the last two decades established that estrogens and their main nuclear receptors (ESR1 and ESR2) and G protein-coupled estrogen receptor (GPER) also regulate male reproductive and nonreproductive organs. 17β-Estradiol (E2) is measureable in blood of men and males of other species, but in rete testis fluids, E2 reaches concentrations normally found only in females and in some species nanomolar concentrations of estrone sulfate are found in semen...
July 1, 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28539237/effects-of-sex-steroids-on-the-pattern-of-methylation-and-expression-of-the-promoter-region-of-estrogen-and-androgen-receptors-in-people-with-gender-dysphoria-under-cross-sex-hormone-treatment
#15
Gloria Aranda, Eduardo Fernández-Rebollo, Marta Pradas-Juni, Felicia Alexandra Hanzu, Susana G Kalko, Irene Halperin, Mireia Mora
Cross-sex hormone therapy (CHT) is critical for phenotypical and physiological transition in adults with gender dysphoria (GD). However, the impact of the CHT onto the molecular level/epigenetic regulation has not been comprehensively addressed. We postulate that CHT in GD could drive changes at the androgen receptor (AR), estrogen receptor alpha (ESR1) and estrogen receptor beta (ESR2), affecting their DNA methylation pattern and mRNA expression that may influence in the phenotypical changes associated to CHT...
May 21, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28537267/meta-analysis-identifies-five-novel-loci-associated-with-endometriosis-highlighting-key-genes-involved-in-hormone-metabolism
#16
Yadav Sapkota, Valgerdur Steinthorsdottir, Andrew P Morris, Amelie Fassbender, Nilufer Rahmioglu, Immaculata De Vivo, Julie E Buring, Futao Zhang, Todd L Edwards, Sarah Jones, Dorien O, Daniëlle Peterse, Kathryn M Rexrode, Paul M Ridker, Andrew J Schork, Stuart MacGregor, Nicholas G Martin, Christian M Becker, Sosuke Adachi, Kosuke Yoshihara, Takayuki Enomoto, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Michiaki Kubo, Gudmar Thorleifsson, Reynir T Geirsson, Unnur Thorsteinsdottir, Leanne M Wallace, Jian Yang, Digna R Velez Edwards, Mette Nyegaard, Siew-Kee Low, Krina T Zondervan, Stacey A Missmer, Thomas D'Hooghe, Grant W Montgomery, Daniel I Chasman, Kari Stefansson, Joyce Y Tung, Dale R Nyholt
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10(-8)), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB)...
May 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28536325/association-of-three-single-nucleotide-polymorphisms-of-esr1-with-breast-cancer-susceptibility-a-meta-analysis
#17
Xu Hu, Linfei Jiang, Chenhui Tang, Yuehong Ju, Li Jiu, Yongyue Wei, Guo Li, Zhao Yang
Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants of ESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms of ESR1), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype...
April 6, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28535794/mutation-site-and-context-dependent-effects-of-esr1-mutation-in-genome-edited-breast-cancer-cell-models
#18
Amir Bahreini, Zheqi Li, Peilu Wang, Kevin M Levine, Nilgun Tasdemir, Lan Cao, Hazel M Weir, Shannon L Puhalla, Nancy E Davidson, Andrew M Stern, David Chu, Ben Ho Park, Adrian V Lee, Steffi Oesterreich
BACKGROUND: Mutations in the estrogen receptor alpha (ERα) 1 gene (ESR1) are frequently detected in ER+ metastatic breast cancer, and there is increasing evidence that these mutations confer endocrine resistance in breast cancer patients with advanced disease. However, their functional role is not well-understood, at least in part due to a lack of ESR1 mutant models. Here, we describe the generation and characterization of genome-edited T47D and MCF7 breast cancer cell lines with the two most common ESR1 mutations, Y537S and D538G...
May 23, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28534210/association-study-of-estrogen-receptor-alpha-gene-polymorphisms-with-bone-mass-assessed-by-quantitative-ultrasound-in-young-adults
#19
María Correa-Rodriguez, Jacqueline Schmidt-RioValle, Blanca Rueda-Medina
Different genetic variants in estrogen receptor alpha (ESR1) have been shown to influence bone phenotypes including quantitative bone ultrasound in elderly. We aimed to investigate the role of ESR1 polymorphisms in bone mass assessed by calcaneal quantitative ultrasound (QUS) in a population of young adults. The study sample consisted of 466 healthy individuals of Caucasian ancestry (315 females and 152 males) aged 18 and 25 years (median age 20.39 ± 2.70). Six ESR1 polymorphisms (rs302033, rs2982552, rs2982575, rs2504063, rs2234693-PvuII and rs9340799-XbaI) were selected as genetic markers and genotyped...
May 22, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28528409/polychlorinated-biphenyl-related-alterations-of-the-expression-of-essential-genes-in-harbour-seals-phoca-vitulina-from-coastal-sites-in-canada-and-the-united-states
#20
Marie Noël, Neil Dangerfield, Steve Jeffries, Dyanna Lambourn, Monique Lance, Caren Helbing, Michel Lebeuf, Peter S Ross
As long-lived marine mammals found throughout the temperate coastal waters of the North Pacific and Atlantic Oceans, harbour seals (Phoca vitulina) have become an invaluable sentinel of food-web contamination. Their relatively high trophic position predisposes harbour seals to the accumulation of harmful levels of persistent organic pollutants (POPs). We obtained skin/blubber biopsy samples from live-captured young harbour seals from various sites in the northeastern Pacific (British Columbia, Canada, and Washington State, USA) as well as the northwestern Atlantic (Newfoundland and Quebec, Canada)...
May 20, 2017: Archives of Environmental Contamination and Toxicology
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