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Esr1 mutation

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https://www.readbyqxmd.com/read/28439737/erratum-to-esr1-mutations-affect-anti-proliferative-responses-to-tamoxifen-through-enhanced-cross-talk-with-igf-signaling
#1
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.
April 24, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28410957/fetal-alpha-5-reductase-val89leu-mutation-is-associated-with-late-miscarriage
#2
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
#3
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
#4
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
#5
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
#6
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...
March 10, 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
#7
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 DNA-damage and breast cancer development...
February 27, 2017: Recent Patents on Anti-cancer Drug Discovery
https://www.readbyqxmd.com/read/28130553/esr1-mutations-in-breast-cancer
#8
Florian Clatot, Laetitia Augusto, Frédéric Di Fiore
No abstract text is available yet for this article.
January 25, 2017: Aging
https://www.readbyqxmd.com/read/28124274/upregulation-of-the-esr1-gene-and-esr-ratio-esr1-esr2-is-associated-with-a-worse-prognosis-in-papillary-thyroid-carcinoma-the-impact-of-the-estrogen-receptor-%C3%AE-%C3%AE-expression-on-clinical-outcomes-in-papillary-thyroid-carcinoma-patients
#9
Jin Wook Yi, Su-Jin Kim, Jong Kyu Kim, Chan Yong Seong, Hyeong Won Yu, Young Jun Chai, June Young Choi, Kyu Eun Lee
BACKGROUND: A gender disparity exists with respect to the incidence of papillary thyroid cancer (PTC), suggesting that sex hormones such as estrogen play a role in PTC development and progression. In this study, we compared estrogen receptor gene expression patterns in PTCs to determine the clinical significance of estrogen gene expression in PTC. METHODS: We analyzed ESR1 and ESR2 messenger RNA expression counts using data from The Cancer Genome Atlas (TCGA). To validate the results of TCGA analysis, we analyzed microarray data (GSE 54958) from the Gene Expression Omnibus...
January 25, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28112739/acquired-cyp19a1-amplification-is-an-early-specific-mechanism-of-aromatase-inhibitor-resistance-in-er%C3%AE-metastatic-breast-cancer
#10
Luca Magnani, Gianmaria Frigè, Raffaella Maria Gadaleta, Giacomo Corleone, Sonia Fabris, Hermannus Kempe, Pernette J Verschure, Iros Barozzi, Valentina Vircillo, Sung-Pil Hong, Ylenia Perone, Massimo Saini, Andreas Trumpp, Giuseppe Viale, Antonino Neri, Simak Ali, Marco Angelo Colleoni, Giancarlo Pruneri, Saverio Minucci
Tumor evolution is shaped by many variables, potentially involving external selective pressures induced by therapies. After surgery, patients with estrogen receptor (ERα)-positive breast cancer are treated with adjuvant endocrine therapy, including selective estrogen receptor modulators (SERMs) and/or aromatase inhibitors (AIs). However, more than 20% of patients relapse within 10 years and eventually progress to incurable metastatic disease. Here we demonstrate that the choice of therapy has a fundamental influence on the genetic landscape of relapsed diseases...
March 2017: Nature Genetics
https://www.readbyqxmd.com/read/28078827/fam83-family-oncogenes-are-broadly-involved-in-human-cancers-an-integrative-multi-omics-approach
#11
Antoine M Snijders, Sun-Young Lee, Bo Hang, Wenshan Hao, Mina J Bissell, Jian-Hua Mao
The development of novel targeted therapies for cancer treatment requires identification of reliable targets. FAM83 ('family with sequence similarity 83') family members A, B, and D were shown recently to have oncogenic potential. However, the overall oncogenic abilities of FAM83 family genes remain largely unknown. Here, we used a systematic and integrative genomics approach to investigate oncogenic properties of the entire FAM83 family members. We assessed transcriptional expression patterns of eight FAM83 family genes (FAM83A-H) across tumor types, the relationship between their expression and changes in DNA copy number, and the association with patient survival...
February 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28069272/smarcb1-ini1-deficient-sinonasal-carcinoma-shows-methylation-of-rassf1-gene-a-clinicopathological-immunohistochemical-and-molecular-genetic-study-of-a-recently-described-entity
#12
Jan Laco, Marcela Chmelařová, Hana Vošmiková, Kateřina Sieglová, Ivana Bubancová, Pavel Dundr, Kristýna Němejcová, Jaroslav Michálek, Petr Čelakovský, Radovan Mottl, Igor Sirák, Milan Vošmik, Aleš Ryška
The aim of the study was detailed clinicopathological investigation of SMARCB1/INI1-deficient sinonasal carcinomas, including molecular genetic analysis of mutational status and DNA methylation of selected protooncogenes and tumor suppressor genes by means of next generation sequencing (NGS) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). A total of 4/56 (7%) cases of SMARCB1/INI1-deficient carcinomas were detected among 56 sinonasal carcinomas diagnosed over a 19year period using immunohistochemical screening...
February 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28027327/mutational-profile-of-metastatic-breast-cancers-a-retrospective-analysis
#13
Celine Lefebvre, Thomas Bachelot, Thomas Filleron, Marion Pedrero, Mario Campone, Jean-Charles Soria, Christophe Massard, Christelle Lévy, Monica Arnedos, Magali Lacroix-Triki, Julie Garrabey, Yannick Boursin, Marc Deloger, Yu Fu, Frédéric Commo, Véronique Scott, Ludovic Lacroix, Maria Vittoria Dieci, Maud Kamal, Véronique Diéras, Anthony Gonçalves, Jean-Marc Ferrerro, Gilles Romieu, Laurence Vanlemmens, Marie-Ange Mouret Reynier, Jean-Christophe Théry, Fanny Le Du, Séverine Guiu, Florence Dalenc, Gilles Clapisson, Hervé Bonnefoi, Marta Jimenez, Christophe Le Tourneau, Fabrice André
BACKGROUND: Major advances have been achieved in the characterization of early breast cancer (eBC) genomic profiles. Metastatic breast cancer (mBC) is associated with poor outcomes, yet limited information is available on the genomic profile of this disease. This study aims to decipher mutational profiles of mBC using next-generation sequencing. METHODS AND FINDINGS: Whole-exome sequencing was performed on 216 tumor-blood pairs from mBC patients who underwent a biopsy in the context of the SAFIR01, SAFIR02, SHIVA, or Molecular Screening for Cancer Treatment Optimization (MOSCATO) prospective trials...
December 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27986707/activating-esr1-mutations-differentially-affect-the-efficacy-of-er-antagonists
#14
Weiyi Toy, Hazel Weir, Pedram Razavi, Mandy Lawson, Anne U Goeppert, Anne Marie Mazzola, Aaron Smith, Joanne Wilson, Christopher Morrow, Wai Lin Wong, Elisa De Stanchina, Kathryn E Carlson, Teresa S Martin, Sharmeen Uddin, Zhiqiang Li, Sean Fanning, John A Katzenellenbogen, Geoffrey Greene, José Baselga, Sarat Chandarlapaty
Recent studies have identified somatic ESR1 mutations in patients with metastatic breast cancer and found some of them to promote estrogen-independent activation of the receptor. The degree to which all recurrent mutants can drive estrogen-independent activities and reduced sensitivity to ER antagonists like fulvestrant is not established. In this report, we characterize the spectrum of ESR1 mutations from more than 900 patients. ESR1 mutations were detected in 10%, with D538G being the most frequent (36%), followed by Y537S (14%)...
March 2017: Cancer Discovery
https://www.readbyqxmd.com/read/27974416/metastatic-er-breast-cancer-s-genomic-landscape
#15
(no author information available yet)
Whole-exome and transcriptome sequencing have yielded a clearer picture of the molecular differences between ER-positive primary and metastatic breast cancer. Comparing metastatic breast tumor samples with matched primary tumor tissue, researchers found clinically relevant mutations in various genes, including ESR1 and RB1, that were acquired during metastasis. Their findings may better guide the selection of therapies for patients no longer benefiting from ER-targeted agents.
December 14, 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27940449/next-generation-sequencing-of-circulating-cell-free-dna-for-evaluating-mutations-and-gene-amplification-in-metastatic-breast-cancer
#16
Karen Page, David S Guttery, Daniel Fernandez-Garcia, Allison Hills, Robert K Hastings, Jinli Luo, Kate Goddard, Vedia Shahin, Laura Woodley-Barker, Brenda M Rosales, R Charles Coombes, Justin Stebbing, Jacqueline A Shaw
BACKGROUND: Breast cancer tissues are heterogeneous and show diverse somatic mutations and somatic copy number alterations (CNAs). We used a novel targeted next generation sequencing (NGS) panel to examine cell-free DNA (cfDNA) to detect somatic mutations and gene amplification in women with metastatic breast cancer (MBC). METHODS: cfDNA from pretreated patients (n = 42) and 9 healthy controls were compared with matched lymphocyte DNA by NGS, using a custom 158 amplicon panel covering hot-spot mutations and CNAs in 16 genes, with further validation of results by droplet digital PCR...
February 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/27926948/intrinsic-subtype-switching-and-acquired-erbb2-her2-amplifications-and-mutations-in-breast-cancer-brain-metastases
#17
Nolan Priedigkeit, Ryan J Hartmaier, Yijing Chen, Damir Vareslija, Ahmed Basudan, Rebecca J Watters, Roby Thomas, Jose P Leone, Peter C Lucas, Rohit Bhargava, Ronald L Hamilton, Juliann Chmielecki, Shannon L Puhalla, Nancy E Davidson, Steffi Oesterreich, Adam M Brufsky, Leonie Young, Adrian V Lee
Importance: Patients with breast cancer (BrCa) brain metastases (BrM) have limited therapeutic options. A better understanding of molecular alterations acquired in BrM could identify clinically actionable metastatic dependencies. Objective: To determine whether there are intrinsic subtype differences between primary tumors and matched BrM and to uncover BrM-acquired alterations that are clinically actionable. Design, Setting, and Participants: In total, 20 cases of primary breast cancer tissue and resected BrM (10 estrogen receptor [ER]-negative and 10 ER-positive) from 2 academic institutions were included...
December 7, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27886589/esr1-mutations-moving-towards-guiding-treatment-decision-making-in-metastatic-breast-cancer-patients
#18
REVIEW
Lindsay Angus, Nick Beije, Agnes Jager, John W M Martens, Stefan Sleijfer
Mutations in the gene coding for the estrogen receptor (ER), ESR1, have been associated with acquired endocrine resistance in patients with ER-positive metastatic breast cancer (MBC). Functional studies revealed that these ESR1 mutations lead to constitutive activity of the ER, meaning that the receptor is active in absence of its ligand estrogen, conferring resistance against several endocrine agents. While recent clinical studies reported that the occurrence of ESR1 mutations is rare in primary breast cancer tumors, these mutations are more frequently observed in metastatic tissue and circulating cell-free DNA of MBC patients pretreated with endocrine therapy...
January 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/27822317/narrowing-the-foxf1-distant-enhancer-region-on-16q24-1-critical-for-acdmpv
#19
Przemyslaw Szafranski, Carmen Herrera, Lori A Proe, Brittany Coffman, Debra L Kearney, Edwina Popek, Paweł Stankiewicz
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by heterozygous point mutations or genomic deletions involving FOXF1 or its 60-kb tissue-specific enhancer region mapping 270 kb upstream of FOXF1 and involving fetal lung-expressed long non-coding RNA genes and CpG-enriched sites. Recently, we have proposed that the FOXF1 locus at 16q24.1 may be a subject of genomic imprinting. FINDINGS: Using custom-designed aCGH and Sanger sequencing, we have identified a novel de novo 104 kb genomic deletion upstream of FOXF1 in a patient with histopathologically verified full phenotype of ACDMPV...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27801670/kinetics-prognostic-and-predictive-values-of-esr1-circulating-mutations-in-metastatic-breast-cancer-patients-progressing-on-aromatase-inhibitor
#20
Florian Clatot, Anne Perdrix, Laetitia Augusto, Ludivine Beaussire, Julien Delacour, Céline Calbrix, David Sefrioui, Pierre-Julien Viailly, Michael Bubenheim, Cristian Moldovan, Cristina Alexandru, Isabelle Tennevet, Olivier Rigal, Cécile Guillemet, Marianne Leheurteur, Sophie Gouérant, Camille Petrau, Jean-Christophe Théry, Jean-Michel Picquenot, Corinne Veyret, Thierry Frébourg, Fabrice Jardin, Nasrin Sarafan-Vasseur, Frédéric Di Fiore
PURPOSE: To assess the prognostic and predictive value of circulating ESR1 mutation and its kinetics before and after progression on aromatase inhibitor (AI) treatment. PATIENTS AND METHODS: ESR1 circulating D538G and Y537S/N/C mutations were retrospectively analyzed by digital droplet PCR after first-line AI failure in patients treated consecutively from 2010 to 2012 for hormone receptor-positive metastatic breast cancer. Progression-free survival (PFS) and overall survival (OS) were analyzed according to circulating mutational status and subsequent lines of treatment...
November 15, 2016: Oncotarget
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