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https://www.readbyqxmd.com/read/29055020/subtype-specific-cancer-associated-fibroblasts-contribute-to-the-pathogenesis-of-uterine-leiomyoma
#1
Xin Wu, Vanida Ann Serna, Justin Thomas, Wenan Qiang, Michael L Blumenfeld, Takeshi Kurita
Recent genomic studies have identified subtypes of uterine leiomyoma (LM) with distinctive genetic alterations. Here we report the elucidation of the biological characteristics of the two most prevalent LM subtypes, MED12 mutant (MED12-LM) and HMGA2-overexpressing (HMGA2-LM) LM. Since each tumor carries only one genetic alteration, both subtypes are considered to be monoclonal. Approximately 90% of cells in HMGA2-LM were smooth muscle cells (SMC) with HMGA2 overexpression. In contrast, MED12-LM consisted of similar numbers of SMC and non-SMC, which were mostly tumor-associated fibroblasts (TAF)...
October 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/29055016/sgk1-is-a-critical-component-of-an-akt-independent-pathway-essential-for-pi3k-mediated-tumor-development-and-maintenance
#2
Arturo Orlacchio, Michela Ranieri, Martina Brave, Valeria Antico Arciuch, Toni Forde, Daniela De Martino, Karen E Anderson, Phillip Hawkins, Antonio Di Cristofano
Activation of the PI3K-AKT signaling cascade is a common critical event during malignant transformation. In this study, we used thyroid gland epithelial cells and a series of genetically engineered mouse strains as model systems to demonstrate that, while necessary, AKT activation is not sufficient for PI3K-driven transformation. Instead, transformation requires the activity of the PDK1-regulated AGC family of protein kinases. In particular, SGK1 was found to be essential for proliferation and survival of thyroid cancer cells harboring PI3K-activating mutations...
October 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/29054934/radiation-induced-dna-damage-in-operators-performing-endovascular-aortic-repair
#3
Tamer El-Sayed, Ashish S Patel, Jun S Cho, James A Kelly, Francesca E Ludwinski, Prakash Saha, Oliver T Lyons, Alberto Smith, Bijan Modarai
Background -Radiation exposure during fluoroscopically-guided interventions such as endovascular aortic repair (EVAR) is a growing concern for operators. This study aimed to measure DNA damage/repair markers in operators perfoming EVAR. Methods -Expression of the DNA damage/repair marker, gamma-H2AX (γ-H2AX) and DNA damage response (DDR) marker, phosphorylated ataxia telangiectasia mutated (pATM), were quantified in circulating lymphocytes in operators during the peri-operative period of endovascular (infra-renal [IEVAR], branched [BEVAR] and fenestrated [FEVAR]) and open aortic repair using flow cytometry...
October 20, 2017: Circulation
https://www.readbyqxmd.com/read/29054768/a-branching-process-model-of-heterogeneous-dna-damages-caused-by-radiotherapy-in-in-vitro-cell-cultures
#4
T Bastogne, J-L Marchand, S Pinel, P Vallois
This paper deals with the dynamic modeling and simulation of cell damage heterogeneity and associated mutant cell phenotypes in the therapeutic responses of cancer cell populations submitted to a radiotherapy session during in vitro assays. Each cell is described by a finite number of phenotypic states with possible transitions between them. The population dynamics is then given by an age-dependent multi-type branching process. From this representation, we obtain formulas for the average size of the global survival population as well as the one of subpopulations associated with 10 mutation phenotypes...
October 17, 2017: Mathematical Biosciences
https://www.readbyqxmd.com/read/29054765/characterization-of-germline-mutations-in-familial-lung-cancer-from-the-chinese-population
#5
Madiha Kanwal, Xiao-Jie Ding, Zhans-Han Ma, Lian-Wei Li, Ping Wang, Ying Chen, Yun-Chao Huang, Yi Cao
Compared with numerous studies of somatic mutations using sporadic lung cancer, the research into germline mutations using familial lung cancer (FLC) is limited. In the present study, we used FLC samples obtained from the Chinese population in highly air-polluted regions to screen for novel germline mutations in lung cancer. Through a whole genome sequencing (WGS) analysis of the nine subjects (four lung cancer patients and five normal family members of FLC), we obtained a whole genome dataset of DNA alterations in FLC samples...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29054680/phosphorylation-of-protein-phosphatase-2a-facilitated-an-early-stage-of-chemical-carcinogenesis
#6
Yuji Ishii, Ken Kuroda, Kohei Matsushita, Yuh Yokoo, Shinji Takasu, Aki Kijima, Takehiko Nohmi, Kumiko Ogawa, Takashi Umemura
Protein phosphatase 2A (PP2A) is a serine-threonine phosphatase that regulates cell signaling pathways. Its inactivation is correlated with tumor malignancy, possibly due to the effects on cell differentiation and malignant cell transformation. Therefore, it has been noted that PP2A could be a promising target for cancer therapy. In our previous study of the hepatocarcinogen estragole (ES), cell proliferation may be required to convert ES-specific DNA adducts to mutations. To explore the trigger for cell proliferation, gpt delta rats were administered ES by gavage at doses of 3, 30 and 300mg/kg/day for 4weeks...
October 17, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29054568/genetic-epidemiology-of-ovarian-cancer-and-prospects-for-polygenic-risk-prediction
#7
REVIEW
Michelle R Jones, Daniella Kamara, Beth Y Karlan, Paul D P Pharoah, Simon A Gayther
Epithelial ovarian cancer (EOC) is a heterogeneous disease with a major heritable component. The different histotypes of invasive disease - high grade serous, clear cell, endometrioid and mucinous - are associated with different underlying genetic susceptibility and epidemiological and lifestyle risk factors, all of which contribute to the different biology and clinical characteristics of each histotype. A combination of familial and population based sequencing studies, and genome wide association studies (GWAS) have identified a range of genetic susceptibility alleles for EOC comprising rare but highly penetrant genes (e...
October 17, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29054544/-abnormalities-of-dna-repair-and-gynecological-cancers
#8
REVIEW
Aurélie Auguste, Alexandra Leary
The demonstration of frequent defects in the DNA damage response in high grade ovarian cancer has paved the way for a new therapeutic approach aimed at exploiting this unique vulnerability. The efficacy of poly (ADP) ribose polymerase inhibitors (PARPi) in patients with homologous recombination (HR) DNA repair deficient ovarian cancer (OC) resulting from a BRCA1/2 mutation has provided the proof of concept for synthetic lethality. Thus, olaparib is now approved by the EMA as maintenance therapy after response to a platinum regimen for patients with recurrent, platinum-sensitive, high-grade serous, BRCA1/2-mutated ovarian cancer...
October 17, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29054375/atr-chk1-inhibitors-and-cancer-therapy
#9
REVIEW
Zhaojun Qiu, Nancy L Oleinick, Junran Zhang
The cell cycle checkpoint proteins ataxia-telangiectasia-mutated-and-Rad3-related kinase (ATR) and its major downstream effector checkpoint kinase 1 (CHK1) prevent the entry of cells with damaged or incompletely replicated DNA into mitosis when the cells are challenged by DNA damaging agents, such as radiation therapy (RT) or chemotherapeutic drugs, that are the major modalities to treat cancer. This regulation is particularly evident in cells with a defective G1 checkpoint, a common feature of cancer cells, due to p53 mutations...
October 17, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29053955/the-met1-linked-ubiquitin-machinery-emerging-themes-of-de-regulation
#10
REVIEW
Matous Hrdinka, Mads Gyrd-Hansen
The linear ubiquitin chain assembly complex, LUBAC, is the only known mammalian ubiquitin ligase that makes methionine 1 (Met1)-linked polyubiquitin (also referred to as linear ubiquitin). A decade after LUBAC was discovered as a cellular activity of unknown function, there are now many lines of evidence connecting Met1-linked polyubiquitin to NF-κB signaling, cell death, inflammation, immunity, and cancer. We now know that Met1-linked polyubiquitin has potent signaling functions and that its deregulation is connected to disease...
October 19, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29053726/prevalence-of-deleterious-germline-variants-in-risk-genes-including-brca1-2-in-consecutive-ovarian-cancer-patients-ago-tr-1
#11
Philipp Harter, Jan Hauke, Florian Heitz, Alexander Reuss, Stefan Kommoss, Frederik Marmé, André Heimbach, Katharina Prieske, Lisa Richters, Alexander Burges, Guido Neidhardt, Nikolaus de Gregorio, Ahmed El-Balat, Felix Hilpert, Werner Meier, Rainer Kimmig, Karin Kast, Jalid Sehouli, Klaus Baumann, Christian Jackisch, Tjoung-Won Park-Simon, Lars Hanker, Sandra Kröber, Jacobus Pfisterer, Heidrun Gevensleben, Andreas Schnelzer, Dimo Dietrich, Tanja Neunhöffer, Mathias Krockenberger, Sara Y Brucker, Peter Nürnberg, Holger Thiele, Janine Altmüller, Josefin Lamla, Gabriele Elser, Andreas du Bois, Eric Hahnen, Rita Schmutzler
BACKGROUND: Identification of families at risk for ovarian cancer offers the opportunity to consider prophylactic surgery thus reducing ovarian cancer mortality. So far, identification of potentially affected families in Germany was solely performed via family history and numbers of affected family members with breast or ovarian cancer. However, neither the prevalence of deleterious variants in BRCA1/2 in ovarian cancer in Germany nor the reliability of family history as trigger for genetic counselling has ever been evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/29053466/classification-of-single-cell-gene-expression-trajectories-from-incomplete-and-noisy-data
#12
Alireza Karbalayghareh, Ulisses Braga-Neto, Edward Russell Dougherty
This paper studies classification of gene-expression trajectories coming from two classes, healthy and mutated (cancerous) using Boolean networks with perturbation (BNps) to model the dynamics of each class at the state level. Each class has its own BNp, which is partially known based on gene pathways. We employ a Gaussian model at the observation level to show the expression values of the genes given the hidden binary states at each time point. We use expectation maximization (EM) to learn the BNps and the unknown model parameters, derive closed-form updates for the parameters, and propose a learning algorithm...
October 16, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/29053343/efficiency-of-opuntia-ficus-in-the-phytoremediation-of-a-soil-contaminated-with-used-motor-oil-and-lead-compared-to-that-of-lolium-perenne-and-aloe-barbadendis
#13
Luisa F Escobar-Alvarado, Mabel Vaca-Mier, Raymundo López-Callejas, Ma Neftalí Rojas-Valencia
Industrial pollutants such as heavy metals and hydrocarbons in soils represent a serious concern due to their persistence and negative effects on the environment, affecting cellular processes in living organisms and even causing mutations and cancer. The main objectives of this work were to evaluate the efficiency of Opuntia ficus in the phytoremediation of a soil polluted with used motor oil. Two other species, one with different and one with similar characteristics, relatively, were used for comparison purposes: Lolium perenne and Aloe barbadensis...
October 20, 2017: International Journal of Phytoremediation
https://www.readbyqxmd.com/read/29053175/distinct-pattern-of-tp53-mutations-in-human-immunodeficiency-virus-related-head-and-neck-squamous-cell-carcinoma
#14
Frederico O Gleber-Netto, Mei Zhao, Sanchit Trivedi, Jiping Wang, Samar Jasser, Christina McDowell, Humam Kadara, Jiexin Zhang, Jing Wang, William N William, J Jack Lee, Minh Ly Nguyen, Sara I Pai, Heather M Walline, Dong M Shin, Robert L Ferris, Thomas E Carey, Jeffrey N Myers, Curtis R Pickering
BACKGROUND: Human immunodeficiency virus-infected individuals (HIVIIs) have a higher incidence of head and neck squamous cell carcinoma (HNSCC), and clinical and histopathological differences have been observed in their tumors in comparison with those of HNSCC patients without a human immunodeficiency virus (HIV) infection. The reasons for these differences are not clear, and molecular differences between HIV-related HNSCC and non-HIV-related HNSCC may exist. This study compared the mutational patterns of HIV-related HNSCC and non-HIV-related HNSCC...
October 20, 2017: Cancer
https://www.readbyqxmd.com/read/29053101/daam2-driven-degradation-of-vhl-promotes-gliomagenesis
#15
Wenyi Zhu, Saritha Krishna, Cristina Garcia, Chia-Ching John Lin, Bartley D Mitchell, Kenneth L Scott, Carrie A Mohila, Chad J Creighton, Seung-Hee Yoo, Hyun Kyoung Lee, Benjamin Deneen
Von Hippel-Landau (VHL) protein is a potent tumor suppressor regulating numerous pathways that drive cancer, but mutations in VHL are restricted to limited subsets of malignancies. Here we identified a novel mechanism for VHL suppression in tumors that do not have inactivating mutations. Using developmental processes to uncover new pathways contributing to tumorigenesis, we found that Daam2 promotes glioma formation. Protein expression screening identified an inverse correlation between Daam2 and VHL expression across a host of cancers, including glioma...
October 20, 2017: ELife
https://www.readbyqxmd.com/read/29052812/fumarase-deficiency-a-safe-and-potentially-disease-modifying-effect-of-high-fat-low-carbohydrate-diet
#16
B Ryder, F Moore, A Mitchell, S Thompson, J Christodoulou, S Balasubramaniam
Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC)...
October 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29052612/erratum-an-exactly-solvable-spatial-model-of-mutation-accumulation-in-cancer
#17
Chay Paterson, Martin A Nowak, Bartlomiej Waclaw
This corrects the article DOI: 10.1038/srep39511.
October 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29052609/neuro-ophthalmic-side-effects-of-molecularly-targeted-cancer-drugs
#18
REVIEW
M T Bhatti, A K S Salama
The past two decades has been an amazing time in the advancement of cancer treatment. Molecularly targeted therapy is a concept in which specific cellular molecules (overexpressed, mutationally activated, or selectively expressed proteins) are manipulated in an advantageous manner to decrease the transformation, proliferation, and/or survival of cancer cells. In addition, increased knowledge of the role of the immune system in carcinogenesis has led to the development of immune checkpoint inhibitors to restore and enhance cellular-mediated antitumor immunity...
October 20, 2017: Eye
https://www.readbyqxmd.com/read/29052598/association-between-clinicopathological-characteristics-and-ras-mutation-in-colorectal-cancer
#19
Johan Rimbert, Gaëlle Tachon, Audelaure Junca, Claire Villalva, Lucie Karayan-Tapon, David Tougeron
In colorectal cancer, KRAS (exons 2, 3, and 4) and NRAS (exons 2, 3, and 4) mutations are associated with resistance to antiepidermal growth factor receptor monoclonal antibodies, and BRAF mutation is a molecular marker of poor prognosis. KRAS exon 2 and BRAF-mutated colorectal cancers have well-known distinct clinicopathological characteristics. Comparison of tumors with different RAS status (exons 2, 3, and 4 of KRAS and NRAS) based on their clinicopathological characteristics has never been established. All colorectal cancer patients with RAS and BRAF testing from 2011 to 2015 were included in this observational retrospective study...
October 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29052513/a-method-to-reduce-ancestry-related-germline-false-positives-in-tumor-only-somatic-variant-calling
#20
Rebecca F Halperin, John D Carpten, Zarko Manojlovic, Jessica Aldrich, Jonathan Keats, Sara Byron, Winnie S Liang, Megan Russell, Daniel Enriquez, Ana Claasen, Irene Cherni, Baffour Awuah, Joseph Oppong, Max S Wicha, Lisa A Newman, Evelyn Jaigge, Seungchan Kim, David W Craig
BACKGROUND: Significant clinical and research applications are driving large scale adoption of individualized tumor sequencing in cancer in order to identify tumors-specific mutations. When a matched germline sample is available, somatic mutations may be identified using comparative callers. However, matched germline samples are frequently not available such as with archival tissues, which makes it difficult to distinguish somatic from germline variants. While population databases may be used to filter out known germline variants, recent studies have shown private germline variants result in an inflated false positive rate in unmatched tumor samples, and the number germline false positives in an individual may be related to ancestry...
October 19, 2017: BMC Medical Genomics
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