نتایج جستجو برای: esr1 gene

تعداد نتایج: 1141824  

2016
Takashi Takeshita Yutaka Yamamoto Mutsuko Yamamoto-Ibusuki Toko Inao Aiko Sueta Saori Fujiwara Yoko Omoto Hirotaka Iwase

BACKGROUND The measurement of circulating cell-free DNA (cfDNA) may transform the management of breast cancer patients. We aimed to investigate the clinical significance of sequential measurements of ESR1 mutations in primary breast cancer (PBC) and metastatic breast cancer (MBC) patients. RESULTS ESR1 mutations ratio in the PBC groups was used as the minimum cutoff for determining increases ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2016
Peilu Wang Amir Bahreini Rekha Gyanchandani Peter C Lucas Ryan J Hartmaier Rebecca J Watters Amruth R Jonnalagadda Humberto E Trejo Bittar Aaron Berg Ronald L Hamilton Brenda F Kurland Kurt R Weiss Aju Mathew Jose Pablo Leone Nancy E Davidson Marina N Nikiforova Adam M Brufsky Tadeu F Ambros Andrew M Stern Shannon L Puhalla Adrian V Lee Steffi Oesterreich

PURPOSE Given the clinical relevance of ESR1 mutations as potential drivers of resistance to endocrine therapy, this study used sensitive detection methods to determine the frequency of ESR1 mutations in primary and metastatic breast cancer, and in cell-free DNA (cfDNA). EXPERIMENTAL DESIGN Six ESR1 mutations (K303R, S463P, Y537C, Y537N, Y537S, D538G) were assessed by digital droplet PCR (ddP...

2017
Rekha Gyanchandani Karthik J. Kota Amruth R. Jonnalagadda Tanya Minteer Beth A. Knapick Steffi Oesterreich Adam M. Brufsky Adrian V. Lee Shannon L. Puhalla

ESR1 mutations are frequently acquired in hormone-resistant metastatic breast cancer (MBC). CDK4/6 inhibition along with endocrine therapy is a promising strategy in hormone receptor-positive MBC. However, the incidence and impact of ESR1 mutations on clinical outcome in patients treated with CDK4/6 inhibitors have not been defined. In this study, we evaluated the frequency of ESR1 mutations in...

Journal: :Endocrine-related cancer 2015
Suzanne E Wardell Erik R Nelson Christina A Chao Holly M Alley Donald P McDonnell

Endocrine therapy, using tamoxifen or an aromatase inhibitor, remains a first-line treatment for estrogen receptor 1 (ESR1) positive breast cancer. However, tumor resistance limits the duration of response. The clinical efficacy of fulvestrant, a selective ER degrader (SERD) that triggers receptor degradation, has confirmed that ESR1 often remains engaged in endocrine therapy resistant cancers....

2013
Piotr Janusz Tomasz Kotwicki Miroslaw Andrusiewicz Malgorzata Kotwicka

INTRODUCTION XbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 gene (ESR1) was described to be associated with curve severity in Japanese idiopathic scoliosis (IS) patients and in Chinese patients with both curve severity and predisposition to IS. PvuII SNP (C/T rs2234693) of ESR1 was described to be associated with the occurrence of IS in the Chinese population; h...

2007
Catherine A. Richter Julia A. Taylor Rachel L. Ruhlen Wade V. Welshons Frederick S. vom Saal

BACKGROUND Hormonal alterations during development have lifelong effects on the prostate gland. Endogenous estrogens, including 17beta-estradiol (E(2)), and synthetic estrogenic endocrine disruptors, such as bisphenol A (BPA), have similar effects on prostate development. Increasing exposure to estrogens within the low-dose, physiologic range results in permanent increases in the size and andro...

Journal: :Dementia and geriatric cognitive disorders 2014
S C Janicki N Park R Cheng L N Clark J H Lee N Schupf

BACKGROUND/AIMS Few studies of gene variants that affect estrogen activity investigate their association with age at onset of Alzheimer's disease (AD) in women of different ethnicities. We examined the influence of ESR1 polymorphisms on age at onset of AD in a multiethnic cohort of women. METHODS Among 1,436 women participating in the Washington Heights Inwood Columbia Aging Project, associat...

Journal: :Development 2005
Elise Lamar Chris Kintner

The HES family of bHLH repressors plays a key role in regulating the differentiation of neural precursors in the vertebrate embryo. Members of the HES gene family are expressed in neural precursors as targets of the Notch signaling pathway, but how this occurs in the context of neurogenesis is not known. Here, we address this issue by identifying enhancers driving Notch-dependent gene expressio...

Journal: :BMC veterinary research 2013
Kaja Sverdrup Borge Malin Melin Patricio Rivera Stein Istre Thoresen Matthew Thomas Webster Henrik von Euler Kerstin Lindblad-Toh Frode Lingaas

BACKGROUND The limited within-breed genetic heterogeneity and an enrichment of disease-predisposing alleles have made the dog a very suitable model for the identification of genes associated with risk for specific diseases. Canine mammary cancer is an example of such a disease. However, the underlying inherited risk factors for canine mammary tumours (CMTs) are still largely unknown. In this st...

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