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Androgen receptor variant

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https://www.readbyqxmd.com/read/29789409/characterization-of-an-activating-r1353h-insulin-like-growth-factor-1-receptor-variant-in-a-male-with-extreme-tall-height
#1
Yingbo Lin, Hermine A van Duyvenvoorde, Hong Liu, Chen Yang, Dudi Warsito, Chang Yin, Sarina G Kant, Felix Haglund, Jan M Wit, Olle Larsson
OBJECTIVE: The Insulin-like growth factor 1 receptor (IGF-1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1R R1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case's mother and three sons all carried the variant, but so far only the eldest son (age 18) presented with tall height. We hypothesized that the variant could constitute an activating mutation...
May 22, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29768628/androgen-insensitivity-syndrome-a-review
#2
Rafael Loch Batista, Elaine M Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria, Mirian Y Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome...
March 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29764864/targeting-the-hsp40-hsp70-chaperone-axis-as-a-novel-strategy-to-treat-castration-resistant-prostate-cancer
#3
Michael A Moses, Yeong Sang Kim, Genesis M Rivera-Marquez, Nobu Oshima, Matthew J Watson, Kristin Beebe, Catherine Wells, Sunmin Lee, Abbey D Zuehlke, Hao Shao, William E Bingman, Vineet Kumar, Sanjay Malhotra, Nancy L Weigel, Jason E Gestwicki, Jane Trepel, Leonard M Neckers
Castration-resistant prostate cancer (CRPC) is characterized by reactivation of androgen receptor (AR) signaling in part by elevated expression of AR splice variants (ARv) including ARv7, a constitutively active, ligand binding domain (LBD)-deficient variant whose expression has been correlated with therapeutic resistance and poor prognosis. In a screen to identify small molecule dual inhibitors of both androgen-dependent and androgen-independent AR gene signatures, we identified the chalcone C86. Binding studies using purified proteins and CRPC cell lysates revealed C86 to interact with heat shock protein 40 (Hsp40)...
May 15, 2018: Cancer Research
https://www.readbyqxmd.com/read/29760584/lsd1-inhibition-attenuates-androgen-receptor-v7-splice-variant-activation-in-castration-resistant-prostate-cancer-models
#4
Sergio Regufe da Mota, Sarah Bailey, Rosemary A Strivens, Annette L Hayden, Leon R Douglas, Patrick J Duriez, M Teresa Borrello, Hanae Benelkebir, A Ganesan, Graham Packham, Simon J Crabb
Background: Castrate resistant prostate cancer (CRPC) is often driven by constitutively active forms of the androgen receptor such as the V7 splice variant (AR-V7) and commonly becomes resistant to established hormonal therapy strategies such as enzalutamide as a result. The lysine demethylase LSD1 is a co-activator of the wild type androgen receptor and a potential therapeutic target in hormone sensitive prostate cancer. We evaluated whether LSD1 could also be therapeutically targeted in CRPC models driven by AR-V7...
2018: Cancer Cell International
https://www.readbyqxmd.com/read/29756415/the-expression-of-androgen-receptor-and-its-variants-in-human-prostate-cancer-tissue-according-to-disease-status-and-its-prognostic-significance
#5
Sung Woo Park, Jung Hee Kim, Hyun Jung Lee, Dong Hoon Shin, Sang Don Lee, Sik Yoon
PURPOSE: To evaluate changes in the expression of androgen receptor (AR) and its variants (ARVs) in human prostate cancer (PCa) tissues according to disease status, and its prognostic significance following radical prostatectomy (RP). MATERIALS AND METHODS: A total of 282 PCa cases were evaluated, which included 252 localized PCa, 8 metastatic castration resistant prostate cancer (CRPC), and 22 benign prostatic hyperplasia (BPH) cases. Samples were collected from patients who underwent RP or transurethral resection and were stored in ethically approved tissue banks...
April 16, 2018: World Journal of Men's Health
https://www.readbyqxmd.com/read/29748904/androgen-receptor-signaling-in-castration-resistant-prostate-cancer-alters-hyperpolarized-pyruvate-to-lactate-conversion-and-lactate-levels-in-vivo
#6
Niki Zacharias, Jaehyuk Lee, Sumankalai Ramachandran, Sriram Shanmugavelandy, James McHenry, Prasanta Dutta, Steven Millward, Seth Gammon, Eleni Efstathiou, Patricia Troncoso, Daniel E Frigo, David Piwnica-Worms, Christopher J Logothetis, Sankar N Maity, Mark A Titus, Pratip Bhattacharya
PURPOSE: Androgen receptor (AR) signaling affects prostate cancer (PCa) growth, metabolism, and progression. Often, PCa progresses from androgen-sensitive to castration-resistant prostate cancer (CRPC) following androgen-deprivation therapy. Clinicopathologic and genomic characterizations of CRPC tumors lead to subdividing CRPC into two subtypes: (1) AR-dependent CRPC containing dysregulation of AR signaling alterations in AR such as amplification, point mutations, and/or generation of splice variants in the AR gene; and (2) an aggressive variant PCa (AVPC) subtype that is phenotypically similar to small cell prostate cancer and is defined by chemotherapy sensitivity, gain of neuroendocrine or pro-neural marker expression, loss of AR expression, and combined alterations of PTEN, TP53, and RB1 tumor suppressors...
May 10, 2018: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/29733970/thyroxine-binding-globulin-deficiency-due-to-a-novel-serpina7-mutation-clinical-characterization-analysis-of-x-chromosome-inactivation-pattern-and-protein-structural-modeling
#7
Cristiane Jeyce Gomes Lima, Andressa Aby Faraj Linhares Maciel, Matheus de Oliveira Andrade, Vinicius Santos da Cunha, Juliana Forte Mazzeu, Lucas Bleicher, Francisco de Assis Rocha Neves, Adriana Lofrano-Porto
OBJECTIVE: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein, encoded by the SERPINA7 gene (Xq22.2). We aim to investigate the molecular basis of partial TBG deficiency (TBG-PD) in a female, by evaluating the X-chromosome inactivation pattern as well as the mutant protein structural modeling. DESIGN AND METHODS: Sequencing of the coding region of the SERPINA7 gene was performed in a female with a TBG-PD phenotype and her first-degree relatives...
May 4, 2018: Gene
https://www.readbyqxmd.com/read/29731997/androgen-receptor-a-potential-therapeutic-target-for-glioblastoma
#8
Nomi Zalcman, Tamar Canello, Haim Ovadia, Hanna Charbit, Bracha Zelikovitch, Anat Mordechai, Yakov Fellig, Stav Rabani, Tal Shahar, Alexander Lossos, Iris Lavon
The median survival time of patients with glioblastoma is still poor (14.6 month), partly due to a lack of effective treatment. We have observed that androgen receptor (AR) is amplified in glioblastomas at the DNA, RNA and protein levels. The AR gene was amplified in 27% of glioblastoma specimens from men (n=22) and of 38.2% from women (n=21). AR-RNA was overexpressed (>2.5 fold) in 93% (n=30), and AR-protein was induced (>two fold) in 56% of the glioblastomas samples (n=16). Thirty percent of the glioblastomas (n=21) also expressed a constitutively active AR-splice-variant (AR-V7/AR3) lacking the Ligand-Binding-Domain...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29725990/gene-expression-analysis-of-immunomagnetically-enriched-circulating-tumor-cell-fraction-in-castration-resistant-prostate-cancer
#9
Markéta Škereňová, Veronika Mikulová, Otakar Čapoun, David Švec, Katarína Kološtová, Viktor Soukup, Hana Honová, Tomáš Hanuš, Tomáš Zima
BACKGROUND: Molecular characterization of tumors could be a key to therapeutic decision-making with regards to targeted therapies in castration-resistant prostate cancer (CRPC). A convenient solution may be non-invasive liquid biopsy testing of circulating tumor cells (CTCs). For this reason, CTC-enriched samples obtained by immunomagnetic separation (AdnaTest® ) were studied as a source material for high-throughput gene expression analysis using BioMark™. PATIENTS AND METHODS: CTC-enriched samples from 41 CRPC patients previously determined to be CTC positive using the AdnaTest® were retrospectively re-analysed for androgen receptor (AR) messenger RNA (mRNA), using the updated AdnaTest® ...
May 3, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29712835/histone-demethylase-jmjd1a-promotes-alternative-splicing-of-ar-variant-7-ar-v7-in-prostate-cancer-cells
#10
Lingling Fan, Fengbo Zhang, Songhui Xu, Xiaolu Cui, Arif Hussain, Ladan Fazli, Martin Gleave, Xuesen Dong, Jianfei Qi
Formation of the androgen receptor splicing variant 7 (AR-V7) is one of the major mechanisms by which resistance of prostate cancer to androgen deprivation therapy occurs. The histone demethylase JMJD1A (Jumonji domain containing 1A) functions as a key coactivator for AR by epigenetic regulation of H3K9 methylation marks. Here, we describe a role for JMJD1A in AR-V7 expression. While JMJD1A knockdown had no effect on full-length AR (AR-FL), it reduced AR-V7 levels in prostate cancer cells. Reexpression of AR-V7 in the JMJD1A-knockdown cells elevated expression of select AR targets and partially rescued prostate cancer cell growth in vitro and in vivo...
April 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29682426/replication-study-androgen-receptor-splice-variants-determine-taxane-sensitivity-in-prostate-cancer
#11
Xiaochuan Shan, Gwenn Danet-Desnoyers, Fraser Aird, Irawati Kandela, Rachel Tsui, Nicole Perfito, Elizabeth Iorns
In 2015, as part of the Prostate Cancer Foundation-Movember Foundation Reproducibility Initiative, we published a Registered Report (Shan et al., 2015) that described how we intended to replicate selected experiments from the paper "Androgen Receptor Splice Variants Determine Taxane Sensitivity in Prostate Cancer" (Thadani-Mulero et al., 2014). Here we report the results of those experiments. Growth of tumor xenografts from two prostate cancer xenograft lines, LuCaP 86.2, which expresses wild-type androgen receptor (AR) and AR variant 567, and LuCaP 23...
2018: PeerJ
https://www.readbyqxmd.com/read/29682197/synthesis-and-anticancer-activity-of-the-derivatives-of-marine-compound-rhizochalin-in-castration-resistant-prostate-cancer
#12
Sergey A Dyshlovoy, Katharina Otte, Kseniya M Tabakmakher, Jessica Hauschild, Tatyana N Makarieva, Larisa K Shubina, Sergey N Fedorov, Carsten Bokemeyer, Valentin A Stonik, Gunhild von Amsberg
Development of resistance to standard therapies complicates treatment of advanced prostate cancer. Alternative splicing variants of the androgen receptor (AR), e.g. AR-V7 can mediate resistance to AR-targeting substances abiraterone and enzalutamide. Semi-synthetic marine natural compound rhizochalinin decreases the expression of AR-V7 in human castration-resistant prostate cancer cells and thus resensitizes cells to enzalutamide. In the current study, we modified the structure of rhizochalin in order to determine structure-activity relationships (SAR) and optimize anticancer properties...
March 30, 2018: Oncotarget
https://www.readbyqxmd.com/read/29673712/update-on-systemic-prostate-cancer-therapies-management-of-metastatic-castration-resistant-prostate-cancer-in-the-era-of-precision-oncology
#13
REVIEW
Philipp Nuhn, Johann S De Bono, Karim Fizazi, Stephen J Freedland, Maurizio Grilli, Philip W Kantoff, Guru Sonpavde, Cora N Sternberg, Srinivasan Yegnasubramanian, Emmanuel S Antonarakis
CONTEXT: Introduction of novel agents for the management of advanced prostate cancer provides a range of treatment options with notable benefits for men with metastatic castration-resistant prostate cancer (mCRPC). At the same time, understanding of optimal patient selection, effective sequential use, and development of resistance patterns remains incomplete. OBJECTIVE: To review current systemic therapies and recent advances in drug development for mCRPC and strategies to aid in patient selection and optimal sequencing...
April 16, 2018: European Urology
https://www.readbyqxmd.com/read/29662164/transcription-factors-operate-across-disease-loci-with-ebna2-implicated-in-autoimmunity
#14
John B Harley, Xiaoting Chen, Mario Pujato, Daniel Miller, Avery Maddox, Carmy Forney, Albert F Magnusen, Arthur Lynch, Kashish Chetal, Masashi Yukawa, Artem Barski, Nathan Salomonis, Kenneth M Kaufman, Leah C Kottyan, Matthew T Weirauch
Explaining the genetics of many diseases is challenging because most associations localize to incompletely characterized regulatory regions. Using new computational methods, we show that transcription factors (TFs) occupy multiple loci associated with individual complex genetic disorders. Application to 213 phenotypes and 1,544 TF binding datasets identified 2,264 relationships between hundreds of TFs and 94 phenotypes, including androgen receptor in prostate cancer and GATA3 in breast cancer. Strikingly, nearly half of systemic lupus erythematosus risk loci are occupied by the Epstein-Barr virus EBNA2 protein and many coclustering human TFs, showing gene-environment interaction...
April 16, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29659830/genome-wide-association-study-identifies-nine-novel-loci-for-2d-4d-finger-ratio-a-putative-retrospective-biomarker-of-testosterone-exposure-in-utero
#15
Nicole M Warrington, Enisa Shevroja, Gibran Hemani, Pirro G Hysi, Yunxuan Jiang, Adam Auton, Cindy G Boer, Massimo Mangino, Carol A Wang, John P Kemp, George McMahon, Carolina Medina-Gomez, Martha Hickey, Katerina Trajanoska, Dieter Wolke, Arfan M Ikram, Grant W Montgomery, Janine F Felix, Margaret J Wright, David A Mackey, Vincent W Jaddoe, Nicholas G Martin, Joyce Y Tung, George Davey Smith, Craig E Pennell, Tim D Spector, Joyce van Meurs, Fernando Rivadeneira, Sarah E Medland, David M Evans
The ratio of the length of the index finger to that of the ring finger (2D:4D) is sexually dimorphic and is commonly used as a noninvasive biomarker of prenatal androgen exposure. Most association studies of 2D:4D ratio with a diverse range of sex-specific traits have typically involved small sample sizes and have been difficult to replicate, raising questions around the utility and precise meaning of the measure. In the largest genome-wide association meta-analysis of 2D:4D ratio to date (N = 15,661, with replication N = 75,821), we identified eleven loci (nine novel) explaining 3...
April 12, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29606109/neoadjuvant-degarelix-with-or-without-apalutamide-followed-by-radical-prostatectomy-for-intermediate-and-high-risk-prostate-cancer-arneo-a-randomized-double-blind-placebo-controlled-trial
#16
Lorenzo Tosco, Annouschka Laenen, Thomas Gevaert, Isabelle Salmon, Christine Decaestecker, Elai Davicioni, Christine Buerki, Frank Claessens, Johan Swinnen, Karolien Goffin, Raymond Oyen, Wouter Everaerts, Lisa Moris, Gert De Meerleer, Karin Haustermans, Steven Joniau
BACKGROUND: Recent retrospective data suggest that neoadjuvant androgen deprivation therapy can improve the prognosis of high-risk prostate cancer (PCa) patients. Novel androgen receptor pathway inhibitors are nowadays available for treatment of metastatic PCa and these compounds are promising for early stage disease. Apalutamide is a pure androgen antagonist with a very high affinity with the androgen receptor. The combination of apalutamide with degarelix, an LHRH antagonist, could increase the efficacy compared to degarelix alone...
April 2, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29588330/onc201-targets-ar-and-ar-v7-signaling-reduces-psa-and-synergizes-with-everolimus-in-prostate-cancer
#17
Avital Lev, Amriti R Lulla, Brian C Ross, Marie D Ralff, Petr B Makhov, David T Dicker, Wafik S El-Deiry
Androgen receptor (AR) signaling plays a key role in prostate cancer progression, and androgen deprivation therapy (ADT) is a mainstay clinical treatment regimen for patients with advanced disease. Unfortunately, most prostate cancers eventually become androgen-independent and resistant to ADT with patients progressing to metastatic castration-resistant prostate cancer (mCRPC). Constitutively activated AR variants (AR-V) have emerged as mediators of resistance to AR-targeted therapy and the progression of mCRPC, and they represent an important therapeutic target...
March 27, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29578115/utility-of-cell-free-nucleic-acid-and-circulating-tumor-cell-analyses-in-prostate-cancer
#18
REVIEW
Theodore Gourdin, Guru Sonpavde
Prostate cancer is characterized by bone metastases and difficulty of objectively measuring disease burden. In this context, cell-free circulating tumor DNA (ctDNA) and circulating tumor cell (CTC) quantitation and genomic profiling afford the ability to noninvasively and serially monitor the tumor. Recent data suggest that ctDNA and CTC quantitation are prognostic for survival. Indeed, CTC enumeration using the CellSearch® platform is validated as a prognostic factor and warrants consideration as a stratification factor in randomized trials...
May 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29574881/low-grade-intraductal-carcinoma-of-the-salivary-gland-with-prominent-oncocytic-change-a-newly-described-variant
#19
Masato Nakaguro, Makoto Urano, Hiroaki Suzuki, Kazuyuki Yamada, Asumi Sakaguchi, Kanako Ogura, Toshiharu Matsumoto, Noritsugu Ono, Tsuguharu Asato, Yoshiki Mikami, Hiroshi Imai, Toshitaka Nagao
AIMS: Low-grade intraductal carcinoma (LG-IDC) is a clinically indolent malignant tumour of the salivary glands. Because of its rarity, the histological variants of LG-IDC have not been well characterized. Herein, we describe five LG-IDC cases with prominent oncocytic change in the major salivary glands. METHODS AND RESULTS: We examined five cases, three males and two females (mean age: 63 years), of LG-IDC with oncocytic change. The sites affected by LG-IDC were the parotid and submandibular glands...
March 24, 2018: Histopathology
https://www.readbyqxmd.com/read/29572775/development-and-application-of-liquid-biopsies-in-metastatic-prostate-cancer
#20
REVIEW
Gareth J Morrison, Amir Goldkorn
PURPOSE OF REVIEW: Metastatic prostate cancer is a lethal and highly heterogeneous malignancy, associated with a broad spectrum of potentially actionable molecular alterations. In the past decade, disease profiling has expanded to include not only traditional tumor tissue, but also liquid biopsies of cells and genetic material circulating in the blood. These liquid biopsies offer a minimally invasive, repeatable source of tumor material for longitudinal disease profiling but also raise new technical and biological challenges...
March 23, 2018: Current Oncology Reports
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