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David huntsman

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https://www.readbyqxmd.com/read/29780310/mobile-software-as-a-medical-device-samd-for-the-treatment-of-epilepsy-development-of-digital-therapeutics-comprising-behavioral-and-music-based-interventions-for-neurological-disorders
#1
Pegah Afra, Carol S Bruggers, Matthew Sweney, Lilly Fagatele, Fareeha Alavi, Michael Greenwald, Merodean Huntsman, Khanhly Nguyen, Jeremiah K Jones, David Shantz, Grzegorz Bulaj
Digital health technologies for people with epilepsy (PWE) include internet-based resources and mobile apps for seizure management. Since non-pharmacological interventions, such as listening to specific Mozart's compositions, cognitive therapy, psychosocial and educational interventions were shown to reduce epileptic seizures, these modalities can be integrated into mobile software and delivered by mobile medical apps as digital therapeutics. Herein, we describe: (1) a survey study among PWE about preferences to use mobile software for seizure control, (2) a rationale for developing digital therapies for epilepsy, (3) creation of proof-of-concept mobile software intended for use as an adjunct digital therapeutic to reduce seizures, and (4) broader applications of digital therapeutics for the treatment of epilepsy and other chronic disorders...
2018: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29757870/changing-clinical-practice-evaluation-of-implementing-recommendations-for-opportunistic-salpingectomy-in-british-columbia-and-ontario
#2
Bryn Lander, Elizabeth Wilcox, Jessica N McAlpine, Sarah J Finlayson, David G Huntsman, Dianne Miller, Gillian E Hanley
OBJECTIVE: The aim of the study was to explore the factors that contributed to the adoption of opportunistic salpingectomies (removal of fallopian at the time of hysterectomy or in lieu of tubal ligation) by gynecologic surgeons in British Columbia (where a knowledge translation initiative took place) and in Ontario (a comparator where no knowledge translation initiative took place). We aimed to understand why the knowledge translation initiative undertaken by OVCARE in British Columbia resulted in such a dramatic uptake in opportunistic salpingectomy...
May 11, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29754820/interfaces-of-malignant-and-immunologic-clonal-dynamics-in-ovarian-cancer
#3
Allen W Zhang, Andrew McPherson, Katy Milne, David R Kroeger, Phineas T Hamilton, Alex Miranda, Tyler Funnell, Nicole Little, Camila P E de Souza, Sonya Laan, Stacey LeDoux, Dawn R Cochrane, Jamie L P Lim, Winnie Yang, Andrew Roth, Maia A Smith, Julie Ho, Kane Tse, Thomas Zeng, Inna Shlafman, Michael R Mayo, Richard Moore, Henrik Failmezger, Andreas Heindl, Yi Kan Wang, Ali Bashashati, Diljot S Grewal, Scott D Brown, Daniel Lai, Adrian N C Wan, Cydney B Nielsen, Curtis Huebner, Basile Tessier-Cloutier, Michael S Anglesio, Alexandre Bouchard-Côté, Yinyin Yuan, Wyeth W Wasserman, C Blake Gilks, Anthony N Karnezis, Samuel Aparicio, Jessica N McAlpine, David G Huntsman, Robert A Holt, Brad H Nelson, Sohrab P Shah
High-grade serous ovarian cancer (HGSC) exhibits extensive malignant clonal diversity with widespread but non-random patterns of disease dissemination. We investigated whether local immune microenvironment factors shape tumor progression properties at the interface of tumor-infiltrating lymphocytes (TILs) and cancer cells. Through multi-region study of 212 samples from 38 patients with whole-genome sequencing, immunohistochemistry, histologic image analysis, gene expression profiling, and T and B cell receptor sequencing, we identified three immunologic subtypes across samples and extensive within-patient diversity...
May 7, 2018: Cell
https://www.readbyqxmd.com/read/29698444/formalin-fixation-increases-deamination-mutation-signature-but-should-not-lead-to-false-positive-mutations-in-clinical-practice
#4
Leah M Prentice, Ruth R Miller, Jeff Knaggs, Alborz Mazloomian, Rosalia Aguirre Hernandez, Patrick Franchini, Kourosh Parsa, Basile Tessier-Cloutier, Anna Lapuk, David Huntsman, David F Schaeffer, Brandon S Sheffield
Genomic analysis of cancer tissues is an essential aspect of personalized oncology treatment. Though it has been suggested that formalin fixation of patient tissues may be suboptimal for molecular studies, this tissue processing approach remains the industry standard. Therefore clinical molecular laboratories must be able to work with formalin fixed, paraffin embedded (FFPE) material. This study examines the effects of pre-analytic variables introduced by routine pathology processing on specimens used for clinical reports produced by next-generation sequencing technology...
2018: PloS One
https://www.readbyqxmd.com/read/29684361/high-frequency-of-ovarian-cyst-development-in-vhl-2b-snf5-mice
#5
Yasumichi Kuwahara, Leslie M Kennedy, Anthony N Karnezis, E Lorena Mora-Blanco, Arlin B Rogers, Christopher D Fletcher, David G Huntsman, Charles W M Roberts, W Kimryn Rathmell, Bernard E Weissman
The new paradigm of mutations in chromatin modifying genes as driver events in the development of cancers has proved challenging to resolve the complex influences over disease phenotypes. In particular, impaired activities of members of the SWI/SNF chromatin remodeling complex have appeared in an increasing variety of tumors. Mutations in SNF5, a member of this ubiquitously expressed complex, arise in almost all cases of malignant rhabdoid tumor in the absence of additional genetic alterations. Therefore, we studied how activation of additional oncogenic pathways might shift the phenotype of disease driven by SNF5 loss...
April 20, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29660837/dicer1-hotspot-mutations-in-ovarian-gynandroblastoma
#6
Yemin Wang, Anthony N Karnezis, Jamie Magrill, Basile Tessier-Cloutier, Amy Lum, Janine Senz, C Blake Gilks, W Glenn McCluggage, David G Huntsman, Friedrich Kommoss
AIMS: Gynandroblastoma is a rare ovarian sex cord-stromal tumor characterized by the presence of both male (Sertoli and/or Leydig cells) and female (granulosa cells) components. We investigated the mutational status of DICER1, FOXL2 and AKT1 genes at hotspot regions that are known to be the key driving events in the development of Sertoli-Leydig cell tumor (SLCT), adult granulosa cell tumor (aGCT) and juvenile granulosa cell tumor (jGCT), respectively, to gain insights into the molecular pathogenesis of gynandroblastoma...
April 16, 2018: Histopathology
https://www.readbyqxmd.com/read/29587661/characteristics-and-outcome-of-the-coeur-canadian-validation-cohort-for-ovarian-cancer-biomarkers
#7
Cécile Le Page, Kurosh Rahimi, Martin Köbel, Patricia N Tonin, Liliane Meunier, Lise Portelance, Monique Bernard, Brad H Nelson, Marcus Q Bernardini, John M S Bartlett, Dimcho Bachvarov, Walter H Gotlieb, Blake Gilks, Jessica N McAlpine, Mark W Nachtigal, Alain Piché, Peter H Watson, Barbara Vanderhyden, David G Huntsman, Diane M Provencher, Anne-Marie Mes-Masson
BACKGROUND: Ovarian carcinoma is the most lethal gynecological malignancy due to early dissemination and acquired resistance to platinum-based chemotherapy. Reliable markers that are independent and complementary to clinical parameters are needed to improve the management of patients with this disease. The Canadian Ovarian Experimental Unified Resource (COEUR) provides researchers with biological material and associated clinical data to conduct biomarker validation studies. Using standards defined by the Canadian Tissue Repository Network (CTRNet), we have previously demonstrated the quality of the biological material from this resource...
March 27, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29506471/a-population-based-analysis-of-germline-brca1-and-brca2-testing-among-ovarian-cancer-patients-in-an-era-of-histotype-specific-approaches-to-ovarian-cancer-prevention
#8
Gillian E Hanley, Jessica N McAlpine, Dianne Miller, David Huntsman, Kasmintan A Schrader, C Blake Gilks, Gillian Mitchell
BACKGROUND: Identifying female carriers of BRCA1 and BRCA2 mutations is imperative for prevention of ovarian cancer and breast cancer. There are five major histologic subtypes of ovarian cancer and high grade serous cancer (the most common) is reported in 75-100% of BRCA1 and BRCA2 mutation carriers. We examined histology-based referral to the Hereditary Cancer Program following an educational prevention campaign recommending BRCA1 and BRCA2 mutation screening for all high-grade serous cancer patients...
March 5, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29502561/myd88-and-tlr4-expression-in-epithelial-ovarian-cancer
#9
Matthew S Block, Robert A Vierkant, Peter F Rambau, Stacey J Winham, Philipp Wagner, Nadia Traficante, Aleksandra Tołoczko, Daniel G Tiezzi, Florin Andrei Taran, Peter Sinn, Weiva Sieh, Raghwa Sharma, Joseph H Rothstein, Teresa Ramón Y Cajal, Luis Paz-Ares, Oleg Oszurek, Sandra Orsulic, Roberta B Ness, Gregg Nelson, Francesmary Modugno, Janusz Menkiszak, Valerie McGuire, Bryan M McCauley, Marie Mack, Jan Lubiński, Teri A Longacre, Zheng Li, Jenny Lester, Catherine J Kennedy, Kimberly R Kalli, Audrey Y Jung, Sharon E Johnatty, Mercedes Jimenez-Linan, Allan Jensen, Maria P Intermaggio, Jillian Hung, Esther Herpel, Brenda Y Hernandez, Andreas D Hartkopf, Paul R Harnett, Prafull Ghatage, José M García-Bueno, Bo Gao, Sian Fereday, Ursula Eilber, Robert P Edwards, Christiani B de Sousa, Jurandyr M de Andrade, Anita Chudecka-Głaz, Georgia Chenevix-Trench, Alicia Cazorla, Sara Y Brucker, Jennifer Alsop, Alice S Whittemore, Helen Steed, Annette Staebler, Kirsten B Moysich, Usha Menon, Jennifer M Koziak, Stefan Kommoss, Susanne K Kjaer, Linda E Kelemen, Beth Y Karlan, David G Huntsman, Estrid Høgdall, Jacek Gronwald, Marc T Goodman, Blake Gilks, María José García, Peter A Fasching, Anna de Fazio, Suha Deen, Jenny Chang-Claude, Francisco J Candido Dos Reis, Ian G Campbell, James D Brenton, David D Bowtell, Javier Benítez, Paul D P Pharoah, Martin Köbel, Susan J Ramus, Ellen L Goode
OBJECTIVE: To evaluate myeloid differentiation primary response gene 88 (MyD88) and Toll-like receptor 4 (TLR4) expression in relation to clinical features of epithelial ovarian cancer, histologic subtypes, and overall survival. PATIENTS AND METHODS: We conducted centralized immunohistochemical staining, semi-quantitative scoring, and survival analysis in 5263 patients participating in the Ovarian Tumor Tissue Analysis consortium. Patients were diagnosed between January 1, 1978, and December 31, 2014, including 2865 high-grade serous ovarian carcinomas (HGSOCs), with more than 12,000 person-years of follow-up time...
March 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29449679/tert-promoter-mutation-in-adult-granulosa-cell-tumor-of-the-ovary
#10
Jessica A Pilsworth, Dawn R Cochrane, Zhouchunyang Xia, Geraldine Aubert, Anniina E M Färkkilä, Hugo M Horlings, Satoshi Yanagida, Winnie Yang, Jamie L P Lim, Yi Kan Wang, Ali Bashashati, Jacqueline Keul, Adele Wong, Kevin Norris, Sara Y Brucker, Florin-Andrei Taran, Bernhard Krämer, Annette Staebler, Esther Oliva, Sohrab P Shah, Stefan Kommoss, Friedrich Kommoss, C Blake Gilks, Duncan M Baird, David G Huntsman
The telomerase reverse transcriptase (TERT) gene is highly expressed in stem cells and silenced upon differentiation. Cancer cells can attain immortality by activating TERT to maintain telomere length and telomerase activity, which is a crucial step of tumorigenesis. Two somatic mutations in the TERT promoter (C228T; C250T) have been identified as gain-of-function mutations that promote transcriptional activation of TERT in multiple cancers, such as melanoma and glioblastoma. A recent study investigating TERT promoter mutations in ovarian carcinomas found C228T and C250T mutations in 15...
February 15, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29440177/ponatinib-shows-potent-antitumor-activity-in-small-cell-carcinoma-of-the-ovary-hypercalcemic-type-sccoht-through-multikinase-inhibition
#11
Jessica D Lang, William P D Hendricks, Krystal A Orlando, Hongwei Yin, Jeffrey Kiefer, Pilar Ramos, Ritin Sharma, Patrick Pirrotte, Elizabeth A Raupach, Chris Sereduk, Nanyun Tang, Winnie S Liang, Megan Washington, Salvatore J Facista, Victoria L Zismann, Emily M Cousins, Michael B Major, Yemin Wang, Anthony N Karnezis, Aleksandar Sekulic, Ralf Hass, Barbara C Vanderhyden, Praveen Nair, Bernard E Weissman, David G Huntsman, Jeffrey M Trent
Purpose: Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, aggressive ovarian cancer in young women that is universally driven by loss of the SWI/SNF ATPase subunits SMARCA4 and SMARCA2. A great need exists for effective targeted therapies for SCCOHT. Experimental Design: To identify underlying therapeutic vulnerabilities in SCCOHT, we conducted high-throughput siRNA and drug screens. Complementary proteomics approaches profiled kinases inhibited by ponatinib. Ponatinib was tested for efficacy in two patient-derived xenograft (PDX) models and one cell-line xenograft model of SCCOHT...
April 15, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29436707/the-molecular-pathology-of-cancer-from-pan-genomics-to-post-genomics
#12
REVIEW
David G Huntsman, Marc Ladanyi
As the cancer genomics of most major cancer types have been comprehensively catalogued over the past decade through a variety of national and international efforts, the delineation of cancer subtypes has been refined, and our understanding of critical cancer drivers and of the potentially targetable vulnerabilities that they create has grown tremendously. The 2018 Annual Review Issue of the Journal of Pathology provides in-depth assessments of how these pan-genomic approaches have enabled advances in cancer classification, targeted therapy selection, and assessment of cancer progression, all of which are now genomically informed, using several cancer types as examples...
April 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29344971/clear-cell-carcinomas-of-the-ovary-and-kidney-clarity-through-genomics
#13
REVIEW
Jennifer X Ji, Yi Kan Wang, Dawn R Cochrane, David G Huntsman
Clear cell ovarian carcinoma (CCOC) and clear cell renal cell carcinoma (ccRCC) both feature clear cytoplasm, owing to the accumulation of cytoplasmic glycogen. Genomic studies have demonstrated several mutational similarities between these two diseases, including frequent alterations in the chromatin remodelling SWI-SNF and cellular proliferation phosphoinositide 3-kinase-mammalian target of rapamycin pathways, as well as a shared hypoxia-like mRNA expression signature. Although many targeted treatment options have been approved for advanced-stage ccRCC, CCOC patients are still treated with conventional platinum and taxane chemotherapy, to which they are resistant...
April 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29317701/a-genome-wide-association-study-identifies-only-two-ancestry-specific-variants-associated-with-spontaneous-preterm-birth
#14
Nadav Rappoport, Jonathan Toung, Dexter Hadley, Ronald J Wong, Kazumichi Fujioka, Jason Reuter, Charles W Abbott, Sam Oh, Donglei Hu, Celeste Eng, Scott Huntsman, Dale L Bodian, John E Niederhuber, Xiumei Hong, Ge Zhang, Weronika Sikora-Wohfeld, Christopher R Gignoux, Hui Wang, John Oehlert, Laura L Jelliffe-Pawlowski, Jeffrey B Gould, Gary L Darmstadt, Xiaobin Wang, Carlos D Bustamante, Michael P Snyder, Elad Ziv, Nikolaos A Patsopoulos, Louis J Muglia, Esteban Burchard, Gary M Shaw, Hugh M O'Brodovich, David K Stevenson, Atul J Butte, Marina Sirota
Preterm birth (PTB), or the delivery prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. Although twin studies estimate that maternal genetic contributions account for approximately 30% of the incidence of PTB, and other studies reported fetal gene polymorphism association, to date no consistent associations have been identified. In this study, we performed the largest reported genome-wide association study analysis on 1,349 cases of PTB and 12,595 ancestry-matched controls from the focusing on genomic fetal signals...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29079036/apela-promotes-tumour-growth-and-cell-migration-in-ovarian-cancer-in-a-p53-dependent-manner
#15
Yuyin Yi, Shu-Huei Tsai, Jung-Chien Cheng, Evan Y Wang, Michael S Anglesio, Dawn R Cochrane, Megan Fuller, Ewan A Gibb, Wei Wei, David G Huntsman, Aly Karsan, Pamela A Hoodless
OBJECTIVE: APELA is a small, secreted peptide that can function as a ligand for the G-protein coupled receptor, Apelin Receptor (APLNR, APJ). APELA plays an essential role in endoderm differentiation and cardiac development during embryogenesis. We investigated whether APELA exerts any functions in cancer progression. METHODS: The Cancer Genome Atlas (TCGA) RNA sequencing datasets, microarray from an OCCC mouse model, and RNA isolated from fresh frozen and FFPE patient tissue were used to assess APELA expression...
December 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29049607/dose-response-association-of-cd8-tumor-infiltrating-lymphocytes-and-survival-time-in-high-grade-serous-ovarian-cancer
#16
Ellen L Goode, Matthew S Block, Kimberly R Kalli, Robert A Vierkant, Wenqian Chen, Zachary C Fogarty, Aleksandra Gentry-Maharaj, Aleksandra Tołoczko, Alexander Hein, Aliecia L Bouligny, Allan Jensen, Ana Osorio, Andreas Hartkopf, Andy Ryan, Anita Chudecka-Głaz, Anthony M Magliocco, Arndt Hartmann, Audrey Y Jung, Bo Gao, Brenda Y Hernandez, Brooke L Fridley, Bryan M McCauley, Catherine J Kennedy, Chen Wang, Chloe Karpinskyj, Christiani B de Sousa, Daniel G Tiezzi, David L Wachter, Esther Herpel, Florin Andrei Taran, Francesmary Modugno, Gregg Nelson, Jan Lubiński, Janusz Menkiszak, Jennifer Alsop, Jenny Lester, Jesús García-Donas, Jill Nation, Jillian Hung, José Palacios, Joseph H Rothstein, Joseph L Kelley, Jurandyr M de Andrade, Luis Robles-Díaz, Maria P Intermaggio, Martin Widschwendter, Matthias W Beckmann, Matthias Ruebner, Mercedes Jimenez-Linan, Naveena Singh, Oleg Oszurek, Paul R Harnett, Peter F Rambau, Peter Sinn, Philipp Wagner, Prafull Ghatage, Raghwa Sharma, Robert P Edwards, Roberta B Ness, Sandra Orsulic, Sara Y Brucker, Sharon E Johnatty, Teri A Longacre, Eilber Ursula, Valerie McGuire, Weiva Sieh, Yanina Natanzon, Zheng Li, Alice S Whittemore, deFazio Anna, Annette Staebler, Beth Y Karlan, Blake Gilks, David D Bowtell, Estrid Høgdall, Francisco J Candido dos Reis, Helen Steed, Ian G Campbell, Jacek Gronwald, Javier Benítez, Jennifer M Koziak, Jenny Chang-Claude, Kirsten B Moysich, Linda E Kelemen, Linda S Cook, Marc T Goodman, María José García, Peter A Fasching, Stefan Kommoss, Suha Deen, Susanne K Kjaer, Usha Menon, James D Brenton, Paul DP Pharoah, Georgia Chenevix-Trench, David G Huntsman, Stacey J Winham, Martin Köbel, Susan J Ramus
Importance: Cytotoxic CD8+ tumor-infiltrating lymphocytes (TILs) participate in immune control of epithelial ovarian cancer; however, little is known about prognostic patterns of CD8+ TILs by histotype and in relation to other clinical factors. Objective: To define the prognostic role of CD8+ TILs in epithelial ovarian cancer. Design, Setting, and Participants: This was a multicenter observational, prospective survival cohort study of the Ovarian Tumor Tissue Analysis Consortium...
December 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29049091/tumor-microenvironment-and-models-of-ovarian-cancer-the-11th-biennial-rivkin-center-ovarian-cancer-research-symposium
#17
Karen McLean, Geeta Mehta
OBJECTIVE: The aim of this study was to review the latest research advances on the topics of the ovarian cancer tumor microenvironment and models of ovarian cancer. METHODS: In September 2016, a symposium of the leaders in the field of ovarian cancer research was convened to present and discuss current advances and future directions in ovarian cancer research. RESULTS: One session was dedicated to Tumor Microenvironment and Models of Ovarian Cancer, and included a keynote presentation from Anil Sood, MD, and an invited oral presentation from David Huntsman, MD...
November 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29032825/line-1-retrotransposon-mediated-dna-transductions-in-endometriosis-associated-ovarian-cancers
#18
Zhouchunyang Xia, Dawn R Cochrane, Michael S Anglesio, Yi Kan Wang, Tayyebeh Nazeran, Basile Tessier-Cloutier, Melissa K McConechy, Janine Senz, Amy Lum, Ali Bashashati, Sohrab P Shah, David G Huntsman
OBJECTIVE: Endometrioid (ENOC) and clear cell ovarian carcinoma (CCOC) share a common precursor lesion, endometriosis, hence the designation endometriosis associated ovarian cancers (EAOC). Long interspersed nuclear element 1 (LINE-1 or L1), is a family of mobile genetic elements activated in many cancers capable of moving neighboring DNA through 3' transductions. Here we investigated the involvement of specific L1-mediated transductions in EAOCs. METHODS: Through whole genome sequencing, we identified active L1-mediated transductions originating within the TTC28 gene in 34% (10/29) of ENOC and 31% (11/35) of CCOC cases...
December 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29029385/analyses-of-germline-variants-associated-with-ovarian-cancer-survival-identify-functional-candidates-at-the-1q22-and-19p12-outcome-loci
#19
Dylan M Glubb, Sharon E Johnatty, Michael C J Quinn, Tracy A O'Mara, Jonathan P Tyrer, Bo Gao, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Ignace Vergote, Digna R Velez Edwards, Alicia Beeghly-Fadiel, Javier Benitez, Maria J Garcia, Marc T Goodman, Pamela J Thompson, Thilo Dörk, Matthias Dürst, Francesmary Modungo, Kirsten Moysich, Florian Heitz, Andreas du Bois, Jacobus Pfisterer, Peter Hillemanns, Beth Y Karlan, Jenny Lester, Ellen L Goode, Julie M Cunningham, Stacey J Winham, Melissa C Larson, Bryan M McCauley, Susanne Krüger Kjær, Allan Jensen, Joellen M Schildkraut, Andrew Berchuck, Daniel W Cramer, Kathryn L Terry, Helga B Salvesen, Line Bjorge, Penny M Webb, Peter Grant, Tanja Pejovic, Melissa Moffitt, Claus K Hogdall, Estrid Hogdall, James Paul, Rosalind Glasspool, Marcus Bernardini, Alicia Tone, David Huntsman, Michelle Woo, Aocs Group, Anna deFazio, Catherine J Kennedy, Paul D P Pharoah, Stuart MacGregor, Georgia Chenevix-Trench
We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29026114/the-driver-landscape-of-sporadic-chordoma
#20
Patrick S Tarpey, Sam Behjati, Matthew D Young, Inigo Martincorena, Ludmil B Alexandrov, Sarah J Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P Butler, Jon W Teague, Adam Shlien, P Andrew Futreal, Sohrab Shah, Ali Bashashati, Farzad Jamshidi, Torsten O Nielsen, David Huntsman, Daniel Baumhoer, Sebastian Brandner, Jay Wunder, Brendan Dickson, Patricia Cogswell, Josh Sommer, Joanna J Phillips, M Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephen Yip, Michael R Stratton, Adrienne M Flanagan, Peter J Campbell
Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases...
October 12, 2017: Nature Communications
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