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ESR1 and breast

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https://www.readbyqxmd.com/read/28283903/detection-of-esr1-mutations-in-plasma-and-tumors-from-metastatic-breast-cancer-patients-using-next-generation-sequencing
#1
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
#2
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/28216037/esr1-single-nucleotide-polymorphism-rs1062577-c-3804t-a-alters-the-susceptibility-of-breast-cancer-risk-in-iranian-population
#3
Zahra Dehghan, Samira Sadeghi, Hossein Tabatabaeian, Kamran Ghaedi, Mansoureh Azadeh, Mohammad Fazilati, Fatemeh Bagheri
OBJECTIVES: Albeit single nucleotide polymorphisms related to ESR1 gene have been studied, only a number of them have been reported to be associated with breast cancer risk. rs1062577 is one of the most recent microRNA-related ESR1 SNPs; however, no study has been conducted to investigate the significance this polymorphism in Iranian population. In this study, we aimed to investigate the frequency and also the association between rs1062577 and breast cancer. MATERIALS AND METHODS: rs1062577 position was genotyped by Tetra-primer ARMS-PCR in totally 182 blood specimens obtained from breast cancer patients (n=86), and healthy blood donors (n=96)...
February 16, 2017: Gene
https://www.readbyqxmd.com/read/28199328/association-of-pvuii-and-xbai-polymorphisms-on-estrogen-receptor-alpha-esr1-gene-to-changes-into-serum-lipid-profile-of-post-menopausal-women-effects-of-aging-body-mass-index-and-breast-cancer-incidence
#4
Neuza Felix Gomes-Rochette, Letícia Soncini Souza, Bruno Otoni Tommasi, Diego França Pedrosa, Sérgio Ragi Eis, Irani do Carmo Francischetto Fin, Fernando Luiz Herkenhoff Vieira, Jones Bernardes Graceli, Letícia Batista Azevedo Rangel, Ian Victor Silva
Estrogen is a steroidal hormone involved in several physiological functions in the female body including regulation of serum lipid metabolism and breast cancer (BC). Estrogen actions on serum lipids mostly occur through its binding to intracellular Estrogen Receptor alpha (ERalpha) isoform, expressed in most of tissues. This gene (ESR1) exhibit many polymorphic sites (SNPs) located either on translated and non-translated regions that regulate ERalpha protein expression and function. This paper aimed to investigate the association of two intronic SNPs of ESR1 gene, namely c454-397T>C (PvuII) and c454-351A>G (XbaI) to alterations in serum levels of total cholesterol (T-chol), total lipid (TL), low density lipoprotein cholesterol (LDL), high density lipoprotein (HDL), and triglycerides (TG) in a cohort of post-menopausal women...
2017: PloS One
https://www.readbyqxmd.com/read/28193205/comparison-of-immunohistochemistry-with-pcr-for-assessment-of-er-pr-and-ki-67-and-prediction-of-pathological-complete-response-in-breast-cancer
#5
Hans-Peter Sinn, Andreas Schneeweiss, Marius Keller, Kornelia Schlombs, Mark Laible, Julia Seitz, Sotirios Lakis, Elke Veltrup, Peter Altevogt, Sebastian Eidt, Ralph M Wirtz, Frederik Marmé
BACKGROUND: Proliferation may predict response to neoadjuvant therapy of breast cancer and is commonly assessed by manual scoring of slides stained by immunohistochemistry (IHC) for Ki-67 similar to ER and PgR. This method carries significant intra- and inter-observer variability. Automatic scoring of Ki-67 with digital image analysis (qIHC) or assessment of MKI67 gene expression with RT-qPCR may improve diagnostic accuracy. METHODS: Ki-67 IHC visual assessment was compared to the IHC nuclear tool (AperioTM) on core biopsies from a randomized neoadjuvant clinical trial...
February 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28178648/polymorphisms-of-esr1-ugt1a1-hcn1-map3k1-and-cyp2b6-are-associated-with-the-prognosis-of-hormone-receptor-positive-early-breast-cancer
#6
Sung-Hsin Kuo, Shi-Yi Yang, San-Lin You, Huang-Chun Lien, Ching-Hung Lin, Po-Han Lin, Chiun-Sheng Huang
In this study, we investigated whether single nucleotide polymorphisms (SNPs) identified by genome-wide association study (GWAS) (MAP3K1, FGFR2, TNRC9, HCN1, and 5p12), and SNPs involved in the metabolism of estrogen (CYP19, COMT, ESR1, and UGT1A1), tamoxifen (CYP2C9, CYP2C19, CYP3A5, and CYP2D6), and chemotherapeutic agents (ABCB1, ALDH3A1, and CYP2B6) are associated with the prognoses of 414 hormone receptor (HR)-positive early breast cancers with negative or 1 to 3 nodal metastases. At a median follow-up period of 10...
February 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28141868/progressive-apobec3b-mrna-expression-in-distant-breast-cancer-metastases
#7
Anieta M Sieuwerts, Willemijne A M E Schrijver, Simone U Dalm, Vanja de Weerd, Cathy B Moelans, Natalie Ter Hoeve, Paul J van Diest, John W M Martens, Carolien H M van Deurzen
BACKGROUND: APOBEC3B was recently identified as a gain-of-function enzymatic source of mutagenesis, which may offer novel therapeutic options with molecules that specifically target this enzyme. In primary breast cancer, APOBEC3B mRNA is deregulated in a substantial proportion of cases and its expression is associated with poor prognosis. However, its expression in breast cancer metastases, which are the main causes of breast cancer-related death, remained to be elucidated. PATIENTS AND METHODS: RNA was isolated from 55 primary breast cancers and paired metastases, including regional lymph node (N = 20) and distant metastases (N = 35)...
2017: PloS One
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/28112739/acquired-cyp19a1-amplification-is-an-early-specific-mechanism-of-aromatase-inhibitor-resistance-in-er%C3%AE-metastatic-breast-cancer
#9
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/28109853/variants-of-estrogen-receptor-alpha-and-beta-genes-modify-the-severity-of-sporadic-breast-cancer
#10
Luciana Montes Rezende, Fernando Augusto Lima Marson, Carmen Sílvia Passos Lima, Carmen Sílvia Bertuzzo
INTRODUCTION: Reproductive factors pose a risk for sporadic breast cancer (BC) development owing to the lifetime exposure to estrogen, a hormone responsible for cell proliferation in the breast. Because variants of the estrogen receptor (ER) alpha and beta genes have been associated with BC risk in numerous populations, the objective of the study was to determine whether the risk and severity of sporadic BC was associated with the rs2228480 (ESR1) and rs4986938 (ESR2) variants in a Brazilian population...
April 15, 2017: Gene
https://www.readbyqxmd.com/read/28107508/prospects-of-targeting-the-gastrin-releasing-peptide-receptor-and-somatostatin-receptor-2-for-nuclear-imaging-and-therapy-in-metastatic-breast-cancer
#11
Simone U Dalm, Willemijne A M E Schrijver, Anieta M Sieuwerts, Maxime P Look, Angelique C J Ziel-van der Made, Vanja de Weerd, John W Martens, Paul J van Diest, Marion de Jong, Carolien H M van Deurzen
BACKGROUND: The gastrin releasing peptide receptor (GRPR) and the somatostatin receptor 2 (SSTR2) are overexpressed on primary breast cancer (BC), making them ideal candidates for receptor-mediated nuclear imaging and therapy. The aim of this study was to determine whether these receptors are also suitable targets for metastatic BC. METHODS: mRNA expression of human BC samples were studied by in vitro autoradiography and associated with radioligand binding. Next, GRPR and SSTR2 mRNA levels of 60 paired primary BCs and metastases from different sites were measured by quantitative reverse transcriptase polymerase chain reaction...
2017: PloS One
https://www.readbyqxmd.com/read/28098224/association-of-genome-wide-association-study-gwas-identified-snps-and-risk-of-breast-cancer-in-an-indian-population
#12
Rajini Nagrani, Sharayu Mhatre, Preetha Rajaraman, Nilanjan Chatterjee, Mohammad R Akbari, Paolo Boffetta, Paul Brennan, Rajendra Badwe, Sudeep Gupta, Rajesh Dikshit
To date, no studies have investigated the association of the GWAS-identified SNPs with BC risk in Indian population. We investigated the association of 30 previously reported and replicated BC susceptibility SNPs in 1,204 cases and 1,212 controls from a hospital based case-control study conducted at the Tata Memorial Hospital, Mumbai. As a measure of total susceptibility burden, the polygenic risk score (PRS) for each individual was defined by the weighted sum of genotypes from 21 independent SNPs with weights derived from previously published estimates of association odds-ratios...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078827/fam83-family-oncogenes-are-broadly-involved-in-human-cancers-an-integrative-multi-omics-approach
#13
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/28078498/perinatal-exposure-to-bisphenol-a-or-diethylstilbestrol-increases-the-susceptibility-to-develop-mammary-gland-lesions-after-estrogen-replacement-therapy-in-middle-aged-rats
#14
Ayelen L Gomez, Melisa B Delconte, Gabriela A Altamirano, Lucia Vigezzi, Veronica L Bosquiazzo, Luís F Barbisan, Jorge G Ramos, Enrique H Luque, Mónica Muñoz-de-Toro, Laura Kass
The development of the mammary gland is a hormone-regulated event. Several factors can dysregulate its growth and make the gland more susceptible to cellular transformation. Among these factors, perinatal exposure to xenoestrogens and hormone replacement therapy has been associated with increased risk of developing breast cancer. Here, we assessed the effects induced by estrogen replacement therapy (ERT) in ovariectomized (OVX) middle-aged rats and whether perinatal exposure to diethylstilbestrol (DES) or bisphenol A (BPA) modified these effects in the mammary gland...
January 11, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/28027327/mutational-profile-of-metastatic-breast-cancers-a-retrospective-analysis
#15
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/27997592/identification-of-post-transcriptional-modulators-of-breast-cancer-transcription-factor-activity-using-mindy
#16
Thomas M Campbell, Mauro A A Castro, Bruce A J Ponder, Kerstin B Meyer
We have recently identified transcription factors (TFs) that are key drivers of breast cancer risk. To better understand the pathways or sub-networks in which these TFs mediate their function we sought to identify upstream modulators of their activity. We applied the MINDy (Modulator Inference by Network Dynamics) algorithm to four TFs (ESR1, FOXA1, GATA3 and SPDEF) that are key drivers of estrogen receptor-positive (ER+) breast cancer risk, as well as cancer progression. Our computational analysis identified over 500 potential modulators...
2016: PloS One
https://www.readbyqxmd.com/read/27986707/activating-esr1-mutations-differentially-affect-the-efficacy-of-er-antagonists
#17
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
#18
(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
#19
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
#20
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
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