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https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#1
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28526081/comprehensive-detection-of-germline-variants-by-msk-impact-a-clinical-diagnostic-platform-for-solid-tumor-molecular-oncology-and-concurrent-cancer-predisposition-testing
#2
Donavan T Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E Robson, Kenneth Offit, Michael F Berger, Khedoudja Nafa, Marc Ladanyi, Liying Zhang
BACKGROUND: The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their families. METHODS: Here, we evaluated the performance of MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) in detecting genetic alterations in 76 genes implicated in cancer predisposition syndromes...
May 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28525740/rnf8-and-ube2s-dependent-ubiquitin-lysine-11-linkage-modification-in-response-to-dna-damage
#3
Atanu Paul, Bin Wang
Ubiquitin modification of proteins plays pivotal roles in the cellular response to DNA damage. Given the complexity of ubiquitin conjugation due to the formation of poly-conjugates of different linkages, functional roles of linkage-specific ubiquitin modification at DNA damage sites are largely unclear. We identify that Lys11-linkage ubiquitin modification occurs at DNA damage sites in an ATM-dependent manner, and ubiquitin-modifying enzymes, including Ube2S E2-conjugating enzyme and RNF8 E3 ligase, are responsible for the assembly of Lys11-linkage conjugates on damaged chromatin, including histone H2A/H2AX...
May 18, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28522871/mug-mel2-a-novel-highly-pigmented-and-well-characterized-nras-mutated-human-melanoma-cell-line
#4
Beate Rinner, Greta Gandolfi, Katharina Meditz, Marie-Therese Frisch, Karin Wagner, Alessia Ciarrocchi, Federica Torricelli, Raili Koivuniemi, Johanna Niklander, Bernadette Liegl-Atzwanger, Birgit Lohberger, Ellen Heitzer, Nassim Ghaffari-Tabrizi-Wizsy, Dagmar Zweytick, Iris Zalaudek
NRAS mutation in melanoma has been associated with aggressive tumor biology and poor prognosis. Although targeted therapy has been tested for NRAS mutated melanoma, response rates still appear much weaker, than in BRAF mutated melanoma. While plenty of cell lines exist, however, only few melanogenic cell lines retain their in vivo characteristics. In this work we present an intensively pigmented and well-characterized cell line derived from a highly aggressive NRAS mutated cutaneous melanoma, named MUG-Mel2...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28522589/identification-of-cancer-targeted-tropomyosin-inhibitors-and-their-synergy-with-microtubule-drugs
#5
Mark A Currier, Justine R Stehn, Ashleigh Swain, Duo Chen, Jeff Hook, Eleanor Eiffe, Andrew Heaton, David Brown, Brooke Nartker, David W Eaves, Nina Kloss, Herbert Treutlein, Jun Zeng, Irina B Alieva, Vera B Dugina, Edna C Hardeman, Peter W Gunning, Timothy P Cripe
Actin filaments, with their associated tropomyosin polymers, and microtubules are dynamic cytoskeletal systems regulating numerous cell functions. While anti-microtubule drugs are well-established, anti-actin drugs have been more elusive. We previously targeted actin in cancer cells by inhibiting the function of a tropomyosin isoform enriched in cancer cells, Tpm3.1, using a first-in-class compound, TR100. Here, we screened over 200 other anti-tropomyosin analogues for anti-cancer and on-target activity using a series of in vitro cell-based and biochemical assays...
May 18, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28522256/sporadic-early-onset-diffuse-gastric-cancers-have-high-frequency-of-somatic-cdh1-alterations-but-low-frequency-of-somatic-rhoa-mutations-compared-with-late-onset-cancers
#6
Soo Young Cho, Jun Won Park, Yang Liu, Young Soo Park, Ju Hee Kim, Hanna Yang, Hyejin Um, Woo Ri Ko, Byung Il Lee, Sun Young Kwon, Seung Wan Ryu, Chae Hwa Kwon, Do Youn Park, Jae-Hyuk Lee, Sang Il Lee, Kyu Sang Song, Hoon Hur, Sang-Uk Han, Heekyung Chang, Su-Jin Kim, Byung-Sik Kim, Jeong-Hwan Yook, Moon-Won Yoo, Beom-Su Kim, In-Seob Lee, Myeong-Cherl Kook, Nina Thiessen, An He, Chip Stewart, Andrew Dunford, Jaegil Kim, Juliann Shih, Gordon Saksena, Andrew D Cherniack, Steven Schumacher, Amaro-Taylor Weiner, Mara Rosenberg, Gad Getz, Eun Gyeong Yang, Min Hee Ryu, Adam J Bass, Hark Kyun Kim
BACKGROUND & AIMS: Early-onset gastric cancer, which develops in younger patients than most gastric cancers, is usually detected at advanced stages, has diffuse histologic features, and occurs more frequently in women. We investigated somatic genomic alterations associated with the unique characteristics of sporadic diffuse gastric cancers (DGCs) from younger patients. METHODS: We conducted whole exome and RNA sequence analyses of 80 resected DGC samples from patients 45 years old or younger in Korea...
May 15, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28521819/linking-hypoxia-dna-damage-and-proliferation-in-multicellular-tumor-spheroids
#7
Stephen Riffle, Ram Naresh Pandey, Morgan Albert, Rashmi S Hegde
BACKGROUND: Multicellular Tumor Spheroids are frequently used to mimic the regionalization of proliferation and the hypoxic environment within avascular tumors. Here we exploit these features to study the activation of DNA damage repair pathways and their correlation to developing hypoxia. METHODS: Activation of DNA damage repair markers, proliferation, cell death, glycogen accumulation and developing hypoxia were investigated using immunofluorescence, immuno-histochemistry, EdU incorporation, Western blots, COMET assays, and pharmacological agents in A673 Ewing sarcoma spheroids and monolayer cultures...
May 18, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28521290/mir-2964a-5p-binding-site-snp-regulates-atm-expression-contributing-to-age-related-cataract-risk
#8
Han Rong, Shanshan Gu, Guowei Zhang, Lihua Kang, Mei Yang, Junfang Zhang, Xinyue Shen, Huaijin Guan
This study was to explore the involvement of DNA repair genes in the pathogenesis of age-related cataract (ARC). We genotyped nine single nucleotide polymorphisms (SNPs) of genes responsible to DNA double strand breaks (DSBs) in 804 ARC cases and 804 controls in a cohort of eye diseases in Chinese population and found that the ataxia telangiectasia mutated (ATM) gene-rs4585:G>T was significantly associated with ARC risk. An in vitro functional test found that miR-2964a-5p specifically down-regulated luciferase reporter expression and ATM expression in the cell lines transfected with rs4585 T allele compared to rs4585 G allele...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28521285/arid1b-alterations-identify-aggressive-tumors-in-neuroblastoma
#9
Soo Hyun Lee, Jung-Sun Kim, Siyuan Zheng, Jason T Huse, Joon Seol Bae, Ji Won Lee, Keon Hee Yoo, Hong Hoe Koo, Sungkyu Kyung, Woong-Yang Park, Ki Woong Sung
Targeted panel sequencing was performed to determine molecular targets and biomarkers in 72 children with neuroblastoma. Frequent genetic alterations were detected in ALK (16.7%), BRCA1 (13.9%), ATM (12.5%), and PTCH1 (11.1%) in an 83-gene panel. Molecular targets for targeted therapy were identified in 16 of 72 patients (22.2%). Two-thirds of ALK mutations were known to increase sensitivity to ALK inhibitors. Sequence alterations in ARID1B were identified in 5 of 72 patients (6.9%). Four of five ARID1B alterations were detected in tumors of high-risk patients...
April 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28521157/use-of-experimentally-determined-henry-s-law-and-salting-out-constants-for-ethanol-in-seawater-for-determination-of-the-saturation-state-of-ethanol-in-coastal-waters
#10
Joan D Willey, Jacqueline P Powell, G Brooks Avery, Robert J Kieber, Ralph N Mead
The Henry's law constant for ethanol in seawater was experimentally determined to be 221 ± 4 M/atm at 22 °C compared with 247 ± 6 M/atm in pure water. The salting out coefficient for ethanol was 0.13 M(-1). In seawater ln(KH) = -(12.8 ± 0.7) + (5310 ± 197)/T where KH is in M atm(-1) and temperature is in K. This plus the salting out coefficient allow calculation of KH for any estuarine or sea water between 1 and 35 °C. High concentrations of dissolved organic carbon do not affect KH values in fresh or seawater...
May 10, 2017: Chemosphere
https://www.readbyqxmd.com/read/28518199/cluster-based-mofs-with-accelerated-chemical-conversion-of-co2-through-c-c-bond-formation
#11
Gang Xiong, Bing Yu, Jie Dong, Ying Shi, Bin Zhao, Liang-Nian He
Investigations on metal-organic frameworks (MOFs) as direct catalysts have been well documented, but direct catalysis of the chemical conversion of terminal alkynes and CO2 as chemical feedstock by MOFs into valuable chemical products has never been reported. We report here two cluster-based MOFs I and II assembled from a multinuclear Gd-cluster and Cu-cluster, displaying high thermal and solvent stabilities. I and II as heterogeneous catalysts possess active catalytic centers [Cu12I12] and [Cu3I2], respectively, exhibiting excellent catalytic performance in the carboxylation reactions of CO2 with 14 kinds of terminal alkynes under 1 atm and mild conditions...
May 18, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28515316/dna-damage-induced-degradation-of-exo1-limits-dna-end-resection-to-ensure-accurate-dna-repair
#12
Nozomi Tomimatsu, Bipasha Mukherjee, Janelle Louise Harris, Francesca Ludovica Boffo, Molly Hardebeck, Patrick Ryan Potts, Kum Kum Khanna, Sandeep Burma
End resection of DNA double-strand breaks (DSBs) to generate 3'-single-stranded DNA facilitates DSB repair via error-free homologous recombination (HR) while stymieing repair by the error-prone non-homologous end joining (NHEJ) pathway. Activation of DNA end resection involves phosphorylation of the 5' to 3' exonuclease EXO1 by the phosphoinositide 3-kinase-like kinases ATM and ATR, and by the cyclin-dependent kinases 1 and 2. After activation, EXO1 must also be restrained in order to prevent over-resection which is known to hamper optimal HR and trigger global genomic instability...
May 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28514757/adhesion-and-stress-related-adaptation-of-glioma-radiochemoresistance-is-circumvented-by-%C3%AE-1-integrin-jnk-co-targeting
#13
Anne Vehlow, Erik Klapproth, Katja Storch, Ellen Dickreuter, Michael Seifert, Antje Dietrich, Rebecca Bütof, Achim Temme, Nils Cordes
Resistance of cancer stem-like and cancer tumor bulk cells to radiochemotherapy and destructive infiltration of the brain fundamentally influence the treatment efficiency to cure of patients suffering from Glioblastoma (GBM). The interplay of adhesion and stress-related signaling and activation of bypass cascades that counteract therapeutic approaches remain to be identified in GBM cells. We here show that combined inhibition of the adhesion receptor β1 integrin and the stress-mediator c-Jun N-terminal kinase (JNK) induces radiosensitization and blocks invasion in stem-like and patient-derived GBM cultures as well as in GBM cell lines...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28513990/network-meta-analysis-on-the-effects-of-dna-damage-response-related-gene-mutations-on-overall-survival-of-breast-cancer-based-on-tcga-database
#14
Chang Liu, Hong Chang, Xiao-Han Li, Ya-Fei Qi, Jin-Ou Wang, Ying Zhang, Xiang-Hong Yang
The study was conducted for comparing the effects of 12 DNA damage response gene mutations (CHEK1, CHEK2, RAD51, BRCA1, BRCA2, MLH1, MSH2, ATM, ATR, MDC1, PARP1 and FANCF) on the overall survival (OS) of breast cancer (BC) patients. We searched the Cancer Genome Atlas (TCGA) database from inception to September 2016. Studies that investigated the association between 12 DNA damage responses related genes and BC consolidated into this Network meta-analysis, by comparing directly or indirectly to evaluate the hazard rate (HR) value and the surface under the cumulative sequence ranking curves (SUCRA)...
May 17, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28512243/plk1-phosphorylation-of-mre11-antagonizes-the-dna-damage-response
#15
Zhiguo Li, Jie Li, Yifan Kong, Shan Yan, Nihal Ahmad, Xiaoqi Liu
The mitotic kinase Plk1 contributes to the DNA damage response (DDR) by targeting multiple factors downstream of the core responder kinase ATM/ATR. In this study, we show that Plk1 also phosphorylates key factors upstream of ATM/ATR and regulates their DDR-related functions. Plk1 phosphorylated Mre11, a component of the Mre11/Rad50/Nbs1 (MRN) complex, at serine 649 (S649) during DDR. Phosphorylation of Mre11-S649 by Plk1 primed subsequent CK2-mediated phosphorylation at Mre11-serine 688 (S688). Phosphorylation of Mre11 at S649/S688 inhibited loading of the MRN complex to damaged DNA, leading to both premature DNA damage checkpoint termination and inhibition of DNA repair...
May 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28508083/structures-of-closed-and-open-conformations-of-dimeric-human-atm
#16
Domagoj Baretić, Hannah K Pollard, David I Fisher, Christopher M Johnson, Balaji Santhanam, Caroline M Truman, Tomas Kouba, Alan R Fersht, Christopher Phillips, Roger L Williams
ATM (ataxia-telangiectasia mutated) is a phosphatidylinositol 3-kinase-related protein kinase (PIKK) best known for its role in DNA damage response. ATM also functions in oxidative stress response, insulin signaling, and neurogenesis. Our electron cryomicroscopy (cryo-EM) suggests that human ATM is in a dynamic equilibrium between closed and open dimers. In the closed state, the PIKK regulatory domain blocks the peptide substrate-binding site, suggesting that this conformation may represent an inactive or basally active enzyme...
May 2017: Science Advances
https://www.readbyqxmd.com/read/28503720/contribution-of-germline-mutations-in-cancer-predisposition-genes-to-tumor-etiology-in-young-women-diagnosed-with-invasive-breast-cancer
#17
Seth K Rummel, Leann Lovejoy, Craig D Shriver, Rachel E Ellsworth
PURPOSE: Although breast cancer in young women accounts for <10% of diagnoses annually, tumors in young patients exhibit more aggressive characteristics and higher mortality rates. Determination of the frequency of germline mutations in cancer predisposition genes is needed to improve the understanding of breast cancer etiology in young women. METHODS: All female patients enrolled in the Clinical Breast Cancer Project between 2001 and 2015 and diagnosed with invasive breast cancer before age 40 were included in this study...
May 13, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28503692/time-resolved-measurements-of-product-formation-in-the-low-temperature-550-675-k-oxidation-of-neopentane-a-probe-to-investigate-chain-branching-mechanism
#18
Arkke J Eskola, Ivan O Antonov, Leonid Sheps, John D Savee, David L Osborn, Craig A Taatjes
Product formation, in particular ketohydroperoxide formation and decomposition, were investigated in time-resolved, Cl-atom initiated neopentane oxidation experiments in the temperature range 550-675 K using a photoionization time-of-flight mass spectrometer. Ionization light was provided either by Advanced Light Source tunable synchrotron radiation or ∼10.2 eV fixed energy radiation from a H2-discharge lamp. Experiments were performed both at 1-2 atm pressure using a high-pressure reactor and also at ∼9 Torr pressure employing a low-pressure reactor for comparison...
May 15, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28502167/transient-porosity-in-densely-packed-crystalline-carbazole-p-diethynylphenylene-carbazole-rotors-co2-and-acetone-sorption-properties
#19
Andres Aguilar-Granda, Salvador Perez-Estrada, Elí Sánchez-González, J Raziel Álvarez, Joelis Rodriguez-Hernandez, Mario Rodriguez, Arian E Roa, Simón Hernandez-Ortega, Ilich A Ibarra, Braulio Rodríguez-Molina
We report for the first time the high sorption properties of a molecular rotor with no permanent voids or channels in its crystal structure. Such crystalline phase originates either from THF, DCM or by the irreversible desolvation of entrapped benzene molecules. From these, the benzene in its solvate form acts as rotation stopper, as supported by dynamic characterization using solid-state 2H NMR experiments. In the solvent free form, the diffusion of small quantities of iodine vapors caused a significant change in the intramolecular rotation, increasing the known activation energy to rotation from 8...
May 14, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28502009/quantitative-mass-spectrometry-by-isotope-dilution-and-multiple-reaction-monitoring-mrm
#20
Paul Russo, Brian L Hood, Nicholas W Bateman, Thomas P Conrads
Selected reaction monitoring (SRM) is used in molecular profiling to detect and quantify specific known proteins in complex mixtures. Using isotope dilution (Barnidge et al., Anal Chem 75(3):445-451, 2003) methodologies, peptides can be quantified without the need for an antibody-based method. Selected reaction monitoring assays employ electrospray ionization mass spectrometry (ESI-MS) followed by two stages of mass selection: a first stage where the mass of the peptide ion is selected and, after fragmentation by collision-induced dissociation (CID), a second stage (tandem MS) where either a single (e...
2017: Methods in Molecular Biology
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