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https://www.readbyqxmd.com/read/28704214/bile-acids-upregulate-brca1-and-downregulate-estrogen-receptor-1-gene-expression-in-ovarian-cancer-cells
#1
Qunyan Jin, Olivier Noel, Mai Nguyen, Lionel Sam, Glenn S Gerhard
Two major risk factors for ovarian cancer include loss-of-function mutations in the BRCA1 (breast cancer 1, early onset) gene and aspects of estrogen metabolism. Modulation of the levels of the normal BRCA1 allele and estrogen receptor expression may therefore be a preventive strategy. Consensus binding motifs for the bile acid-responsive transcription factor farnesoid X receptor were identified in the BRCA1 and estrogen receptor 1 (ESR1) and estrogen receptor 2 (ESR2) genes, supported by chromatin immunoprecipitation sequencing data...
July 12, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28694015/predicting-treatment-resistance-and-relapse-through-circulating-dna
#2
Emma Beddowes, Stephen J Sammut, Meiling Gao, Carlos Caldas
The use of circulating DNA(ctDNA) to provide a non-invasive, personalised genomic snapshot of a patients' tumour has huge potential. Over the past five years this area of research has gained huge momentum. A number of studies in metastatic breast cancer have shown the potential of ctDNA to predict prognosis and treatment response using ctDNA. Further developments have included deeper sequencing using whole exome and shallow whole genome approaches which has the potential to identify new mutations and chromosomal copy number changes which appear upon resistance to treatment...
July 7, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28687497/the-protein-encoded-by-the-ccdc170-breast-cancer-gene-functions-to-organize-the-golgi-microtubule-network
#3
Pengtao Jiang, Yueran Li, Andrey Poleshko, Valentina Medvedeva, Natalia Baulina, Yongchao Zhang, Yan Zhou, Carolyn M Slater, Trinity Pellegrin, Jason Wasserman, Michael Lindy, Andrey Efimov, Mary Daly, Richard A Katz, Xiaowei Chen
Genome-Wide Association Studies (GWAS) and subsequent fine-mapping studies (>50) have implicated single nucleotide polymorphisms (SNPs) located at the CCDC170/C6ORF97-ESR1 locus (6q25.1) as being associated with the risk of breast cancer. Surprisingly, our analysis using genome-wide differential allele-specific expression (DASE), an indicator for breast cancer susceptibility, suggested that the genetic alterations of CCDC170, but not ESR1, account for GWAS-associated breast cancer risk at this locus. Breast cancer-associated CCDC170 nonsense mutations and rearrangements have also been detected, with the latter being specifically implicated in driving breast cancer...
June 27, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28680952/a-review-of-fulvestrant-in-breast-cancer
#4
REVIEW
Mark R Nathan, Peter Schmid
Fulvestrant is a selective estrogen receptor degrader that binds, blocks and degrades the estrogen receptor (ER), leading to complete inhibition of estrogen signaling through the ER. This review article further explains the mechanism of action of the drug and goes on to review the trials carried out to optimize its dosing. Multiple trials have been undertaken to compare fulvestrant with other endocrine treatments, and results have shown it to have similar efficacy to anastrozole, tamoxifen and exemestane at 250 mg every 28 days...
2017: Oncology and Therapy
https://www.readbyqxmd.com/read/28679775/detection-of-activating-estrogen-receptor-gene-esr1-mutations-in-single-circulating-tumor-cells
#5
Carmela Paolillo, Zhaomei Mu, Giovanna Rossi, Matthew J Schiewer, Thomas Nguyen, Laura Austin, Ettore Capoluongo, Karen E Knudsen, Massimo Cristofanilli, Paolo Fortina
Early detection is essential for treatment plans before onset of metastatic disease. Our purpose was to demonstrate feasibility to detect and monitor estrogen receptor 1 (ESR1) gene mutations at the single circulating tumor cell (CTC) level in metastatic breast cancer (MBC). <br /><br />Experimental Design: We used a CTC molecular characterization approach to investigate heterogeneity of 14 hot spot mutations in ESR1 and their correlation with endocrine resistance. Combining the CellSearch(®) and DEPArray™ technologies allowed recovery of 71 single CTCs and 12 WBC from 3 ER-positive MBC patients...
July 5, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28636544/analysis-of-esr1-and-pik3ca-mutations-in-plasma-cell-free-dna-from-er-positive-breast-cancer-patients
#6
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/28580595/mutation-screening-of-10-cancer-susceptibility-genes-in-unselected-breast-cancer-patients
#7
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/28535794/mutation-site-and-context-dependent-effects-of-esr1-mutation-in-genome-edited-breast-cancer-cell-models
#8
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/28527569/estrogen-hormone-biology
#9
Katherine J Hamilton, Sylvia C Hewitt, Yukitomo Arao, Kenneth S Korach
The hormone estrogen is involved in both female and male reproduction, as well as numerous other biological systems including the neuroendocrine, vascular, skeletal, and immune systems. Therefore, it is also implicated in many different diseases and conditions such as infertility, obesity, osteoporosis, endometriosis, and a variety of cancers. Estrogen works through its two distinct nuclear receptors, estrogen receptor alpha (ERα) and estrogen receptor beta (ERβ). Various transcriptional regulation mechanisms have been identified as the mode of action for estrogen, mainly the classical mechanism with direct DNA binding but also a nongenomic mode of action and one using tethered or indirect binding...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28520870/defining-the-role-of-estrogen-receptor-beta-in-the-regulation-of-female-fertility
#10
Ma Karim Rumi, Prabhakar Singh, Katherine F Roby, Xiao Zhao, Khursheed Iqbal, Anamika Ratri, Tianhua Lei, Wei Cui, Shaon Borosha, Pramod Dhakal, Kaiyu Kubota, Damayanti Chakraborty, Jay L Vivian, Michael W Wolfe, Michael J Soares
Estrogens are essential hormones for the regulation of fertility. Cellular responses to estrogens are mediated by estrogen receptor alpha (ESR1) and estrogen receptor beta (ESR2). In mouse and rat models, disruption of Esr1 causes infertility in both males and females. However, the role of ESR2 in reproductive function remains undecided due to a wide variation in phenotypic observations among Esr2 mutant mouse strains. Regulatory pathways independent of ESR2 binding to its cognate DNA response element have also been implicated in ESR2 signaling...
May 16, 2017: Endocrinology
https://www.readbyqxmd.com/read/28481895/succinct-workflows-for-circulating-tumor-cells-after-enrichment-from-systematic-counting-to-mutational-profiling
#11
Victor Chun-Lam Wong, Josephine Mun-Yee Ko, Chi-Tat Lam, Maria Li Lung
PURPOSE: This study aims to establish a highly adaptable workflow downstream of microfluidic enrichment for facilitating systematic CTC enumeration and genetic discovery. METHODS: To facilitate CTC enumeration, we established a CK/EPCAM-combined immunostaining strategy and an automated CTC analytical pipeline using an open-source image analyzer. By virtue of this workflow, we conducted a pilot study of 56 cancer patients and 21 healthy individuals using a high-throughput spiral microfluidic chip system...
2017: PloS One
https://www.readbyqxmd.com/read/28473534/elacestrant-rad1901-a-selective-estrogen-receptor-degrader-serd-has-anti-tumor-activity-in-multiple-er-breast-cancer-patient-derived-xenograft-models
#12
Teeru Bihani, Hitisha K Patel, Heike Arlt, Nianjun Tao, Hai Jiang, Jeff Brown, Dinesh M Purandare, Gary Hattersley, Fiona Garner
PURPOSE: Estrogen receptor-positive (ER+) breast cancers are typically treated with endocrine agents, and dependence on the ER pathway is often retained even after multiple rounds of anti-estrogen therapy. Selective estrogen receptor degraders (SERDs) are being developed as a strategy to more effectively target ER and exploit ER dependence in these cancers, which includes inhibiting both wild-type and mutant forms of ER. The purpose of this study was to evaluate the efficacy of a novel orally bioavailable SERD, elacestrant (RAD1901), in preclinical models of ER+ breast cancer...
May 4, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28439737/erratum-to-esr1-mutations-affect-anti-proliferative-responses-to-tamoxifen-through-enhanced-cross-talk-with-igf-signaling
#13
Luca Gelsomino, Guowei Gu, Yassine Rechoum, Amanda R Beyer, Sasha M Pejerrey, Anna Tsimelzon, Tao Wang, Kenneth Huffman, Andrew Ludlow, Sebastiano Andò, Suzanne A W Fuqua
No abstract text is available yet for this article.
June 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28410957/fetal-alpha-5-reductase-val89leu-mutation-is-associated-with-late-miscarriage
#14
Beatriz Pérez-Nevot, Jose-Luis Royo, Miriam Cortés, Ana M Lendínez, Arturo Reyes-Palomares, Ana-José Jiménez, Maximiliano Ruiz-Galdón, Armando Reyes-Engel
The present study was undertaken to determine the role of different polymorphisms affecting the testosterone/oestrogen pathway in miscarriage. Alpha 5-reductase (SRD5A2) rs523349 and rs9282858, cytochrome P450 aromatase (CYP19A1) rs4646, rs10046 and rs2236722 and oestrogen receptor (ESR1) rs9340799, rs2234693 and rs6932902 polymorphisms were selected. The case group consisted of 94 samples of formalin-fixed and paraffin-embedded fetal tissue from a miscarriage at ≤24 weeks. The control group comprised a population of 331 young healthy subjects...
March 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28394528/-female-pelvic-floor-dysfunction-from-the-perspectives-of-genetic-studies
#15
L V Akulenko, G R Kasyan, Yu O Kozlova, N V Tupikina, D A Vishnevsky, D Yu Pushkar
Currently, despite the growing prevalence of female pelvic floor dysfunction, no consensus exists among researchers regarding its etiology and pathogenesis. There is no doubt, however, that this is a multifactorial disorder with a genetic predisposition. The risk for developing pelvic floor dysfunction is determined by the interaction of multiple additive genetic (mutations and/or polymorphic alleles) and environmental factors. This review of the world literature presents a rationale for searching specific molecular genetic factors shaping the structure of the genetic susceptibility to female pelvic floor dysfunction...
April 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28374222/the-evolving-role-of-the-estrogen-receptor-mutations-in-endocrine-therapy-resistant-breast-cancer
#16
REVIEW
Rinath Jeselsohn, Carmine De Angelis, Myles Brown, Rachel Schiff
Recurrent ligand-binding domain ESR1 mutations have recently been detected in a substantial number of patients with metastatic ER+ breast cancer and evolve under the selective pressure of endocrine treatments. In this review, we evaluate the current understanding of the biological and clinical significance of these mutations. The preclinical studies revealed that these mutations lead to constitutive ligand-independent activity, indicating resistance to aromatase inhibitors and decreased sensitivity to tamoxifen and fulvestrant...
May 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28361033/clinical-implications-of-esr1-mutations-in-hormone-receptor-positive-advanced-breast-cancer
#17
REVIEW
Tomas Reinert, Everardo D Saad, Carlos H Barrios, José Bines
Hormone receptor-positive breast cancer is the most frequent breast cancer subtype. Endocrine therapy (ET) targeting the estrogen receptor (ER) pathway represents the main initial therapeutic approach. The major strategies include estrogen deprivation and the use of selective estrogen modulators or degraders, which show efficacy in the management of metastatic and early-stage disease. However, clinical resistance associated with progression of disease remains a significant therapeutic challenge. Mutations of the ESR1 gene, which encodes the ER, have been increasingly recognized as an important mechanism of ET resistance, with a prevalence that ranges from 11 to 39%...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28283903/detection-of-esr1-mutations-in-plasma-and-tumors-from-metastatic-breast-cancer-patients-using-next-generation-sequencing
#18
Takehiro Yanagawa, Naofumi Kagara, Tomohiro Miyake, Tomonori Tanei, Yasuto Naoi, Masafumi Shimoda, Kenzo Shimazu, Seung Jin Kim, Shinzaburo Noguchi
PURPOSE: Liquid biopsy using digital PCR (dPCR) has been widely used for the screening of ESR1 mutations, since they are frequently identified in the hotspot. However, dPCR is limited to the known mutations. Therefore, we aimed to analyze the utility of next-generation sequencing (NGS) to discover novel ESR1 mutations. METHODS: Whole exon sequencing of the ESR1 gene using NGS was performed in 16 primary and 47 recurrent tumor samples and 38 plasma samples from hormone receptor-positive metastatic breast cancer patients...
June 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28245776/activating-mutations-of-esr1-brca1-and-cyp19-aromatase-genes-confer-tumor-response-in-breast-cancers-treated-with-antiestrogens
#19
Zsuzsanna Suba
BACKGROUND: Four decades of erroneous breast cancer therapy with antiestrogens yielded the chaotic mixture of manifestations of artificial ER-inhibition and compensatory activating ER-mutations together with unreckonable tumor responses. OBJECTIVE: Due to the confusions between the anticancer and carcinogenic impacts of antiestrogens and synthetic estrogens, the old principle needs to be revised as concerns ER-signaling induced DNAdamage and breast cancer development...
2017: Recent Patents on Anti-cancer Drug Discovery
https://www.readbyqxmd.com/read/28130553/esr1-mutations-in-breast-cancer
#20
Florian Clatot, Laetitia Augusto, Frédéric Di Fiore
No abstract text is available yet for this article.
January 25, 2017: Aging
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