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Cancer genetics

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https://www.readbyqxmd.com/read/28550647/genetic-variation-in-the-adipoq-gene-adiponectin-concentrations-and-risk-of-colorectal-cancer-a-mendelian-randomization-analysis-using-data-from-three-large-cohort-studies
#1
Katharina Nimptsch, Mingyang Song, Krasimira Aleksandrova, Michail Katsoulis, Heinz Freisling, Mazda Jenab, Marc J Gunter, Konstantinos K Tsilidis, Elisabete Weiderpass, H Bas Bueno-De-Mesquita, Dawn Q Chong, Majken K Jensen, Chunsen Wu, Kim Overvad, Tilman Kühn, Myrto Barrdahl, Olle Melander, Karin Jirström, Petra H Peeters, Sabina Sieri, Salvatore Panico, Amanda J Cross, Elio Riboli, Bethany Van Guelpen, Robin Myte, José María Huerta, Miguel Rodriguez-Barranco, José Ramón Quirós, Miren Dorronsoro, Anne Tjønneland, Anja Olsen, Ruth Travis, Marie-Christine Boutron-Ruault, Franck Carbonnel, Gianluca Severi, Catalina Bonet, Domenico Palli, Jürgen Janke, Young-Ae Lee, Heiner Boeing, Edward L Giovannucci, Shuji Ogino, Charles S Fuchs, Eric Rimm, Kana Wu, Andrew T Chan, Tobias Pischon
Higher levels of circulating adiponectin have been related to lower risk of colorectal cancer in several prospective cohort studies, but it remains unclear whether this association may be causal. We aimed to improve causal inference in a Mendelian Randomization meta-analysis using nested case-control studies of the European Prospective Investigation into Cancer and Nutrition (EPIC, 623 cases, 623 matched controls), the Health Professionals Follow-up Study (HPFS, 231 cases, 230 controls) and the Nurses' Health Study (NHS, 399 cases, 774 controls) with available data on pre-diagnostic adiponectin concentrations and selected single nucleotide polymorphisms in the ADIPOQ gene...
May 26, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28550496/prostate-cancer-in-jordanian-arab-population-erg-status-and-relationship-with-clinicopathologic-characteristics
#2
Najla Aldaoud, Nour Abdo, Samir Al Bashir, Mohammad Alqudah, Noor Marji, Hiba Alzou'bi, Rami Alazab, Kiril Trpkov
TMPRSS2/ERG fusion was found to be the most common genetic event in prostate adenocarcinoma. There is a strong correlation between the fusion and ERG-positive immunostaining. Many studies showed racial variation in ERG expression in prostate cancer patients. There is no data however on the rate of ERG-positive cancer in Jordanian or Arab population. We evaluated the frequency and the significance of ERG fusion in Jordanian-Arab population using immunohistochemistry for ERG. The cohort included 193 prostate cancer specimens: 109 needle core biopsies, 45 radical prostatectomies, 37 transurethral resections of prostate, and 2 enucleation specimens...
May 26, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28550454/oncogenic-roles-of-the-pi3k-akt-mtor-axis
#3
Masahiro Aoki, Teruaki Fujishita
The PI3K/AKT/mTOR pathway is frequently activated in various human cancers and has been considered a promising therapeutic target. Many of the positive regulators of the PI3K/AKT/mTOR axis, including the catalytic (p110α) and regulatory (p85α), of class IA PI3K, AKT, RHEB, mTOR, and eIF4E, possess oncogenic potentials, as demonstrated by transformation assays in vitro and by genetically engineered mouse models in vivo. Genetic evidences also indicate their roles in malignancies induced by activation of the upstream oncoproteins including receptor tyrosine kinases and RAS and those induced by the loss of the negative regulators of the PI3K/AKT/mTOR pathway such as PTEN, TSC1/2, LKB1, and PIPP...
May 28, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28550453/exchange-of-genetic-sequences-between-viruses-and-hosts
#4
Robin A Weiss
Although genetic transfer between viruses and vertebrate hosts occurs less frequently than gene flow between bacteriophages and prokaryotes, it is extensive and has affected the evolution of both parties. With retroviruses, the integration of proviral DNA into chromosomal DNA can result in the activation of adjacent host gene expression and in the transduction of host transcripts into retroviral genomes as oncogenes. Yet in contrast to lysogenic phage, there is little evidence that viral oncogenes persist in a chain of natural transmission or that retroviral transduction is a significant driver of the horizontal spread of host genes...
May 28, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28549790/the-inhibitor-of-differentiation-1-id-1-enables-lung-cancer-liver-colonization-through-activation-of-an-emt-program-in-tumor-cells-and-establishment-of-the-pre-metastatic-niche
#5
Eduardo Castañón, Alex Soltermann, Inés López, Marta Román, Margarita Ecay, María Collantes, Miriam Redrado, Iosune Baraibar, José María López-Picazo, Christian Rolfo, Fernando Vidal-Vanaclocha, Luis Raez, Walter Weder, Alfonso Calvo, Ignacio Gil-Bazo
Id1 promotes carcinogenesis and metastasis, and predicts prognosis of non-small cell lung cancer (NSCLC)-adenocarcionoma patients. We hypothesized that Id1 may play a critical role in lung cancer colonization of the liver by affecting both tumor cells and the microenvironment. Depleted levels of Id1 in LLC (Lewis lung carcinoma cells, LLC shId1) significantly reduced cell proliferation and migration in vitro. Genetic loss of Id1 in the host tissue (Id1(-/-) mice) impaired liver colonization and increased survival of Id1(-/-) animals...
May 23, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28549458/detection-of-alk-fusion-transcripts-in-ffpe-lung-cancer-samples-by-nanostring-technology
#6
Adriane F Evangelista, Maicon F Zanon, Adriana Cruvinel Carloni, Flávia E de Paula, Mariana Andozia Morini, Maressa Ferreira-Neto, Iberê Cauduro Soares, Jose Elias Miziara, Pedro de Marchi, Cristovam Scapulatempo-Neto, Rui M Reis
BACKGROUND: ALK-rearranged lung cancers exhibit specific pathologic and clinical features and are responsive to anti-ALK therapies. Therefore, the detection of ALK-rearrangement is fundamental for personalized lung cancer therapy. Recently, new molecular techniques, such as NanoString nCounter, have been developed to detect ALK fusions with more accuracy and sensitivity. METHODS: In the present study, we intended to validate a NanoString nCounter ALK-fusion panel in routine biopsies of FFPE lung cancer patients...
May 26, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28549078/herod-a-human-ethnic-and-regional-specific-omics-database
#7
Xian Zeng, Lin Tao, Zhang Peng, Chu Qin, Shangying Chen, Weidong He, Ying Tan, Hong Xia Liu, Sheng Yong Yang, Zhe Chen, Yu Yang Jiang, Yu Zong Chen
Motivation: Genetic and gene expression variations within and between populations and across geographical regions have substantial effects on the biological phenotypes, diseases, and therapeutic response. The development of precision medicines can be facilitated by the OMICS studies of the patients of specific ethnicity and geographic region. However, there is an inadequate facility for broadly and conveniently accessing the ethnic and regional specific OMICS data. Results: Here, we introduced a new free database, HEROD, a human ethnic and regional specific OMICS database...
May 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28548128/genomic-profiling-of-breast-secretory-carcinomas-reveals-distinct-genetics-from-other-breast-cancers-and-similarity-to-mammary-analog-secretory-carcinomas
#8
Gregor Krings, Nancy M Joseph, Gregory R Bean, David Solomon, Courtney Onodera, Eric Talevich, Iwei Yeh, James P Grenert, Elizabeth Hosfield, Emily D Crawford, Richard C Jordan, Annemieke van Zante, Charles Zaloudek, Sandra J Shin, Yunn-Yi Chen
Secretory carcinomas of the breast are rare tumors with distinct histologic features, recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion and indolent clinical behavior. Mammary analog secretory carcinomas arising in other sites are histopathologically similar to the breast tumors and also harbor ETV6-NTRK3 fusions. Breast secretory carcinomas are often triple (estrogen and progesterone receptor, HER2) negative with a basal-like immunophenotype. However, genomic studies are lacking, and whether these tumors share genetic features with other basal and/or triple negative breast cancers is unknown...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28548127/mismatch-repair-deficiency-commonly-precedes-adenoma-formation-in-lynch-syndrome-associated-colorectal-tumorigenesis
#9
Shigeki Sekine, Taisuke Mori, Reiko Ogawa, Masahiro Tanaka, Hiroshi Yoshida, Hirokazu Taniguchi, Takeshi Nakajima, Kokichi Sugano, Teruhiko Yoshida, Mamoru Kato, Eisaku Furukawa, Atsushi Ochiai, Nobuyoshi Hiraoka
Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28548104/genomic-analysis-of-oesophageal-squamous-cell-carcinoma-identifies-alcohol-drinking-related-mutation-signature-and-genomic-alterations
#10
Jiang Chang, Wenle Tan, Zhiqiang Ling, Ruibin Xi, Mingming Shao, Mengjie Chen, Yingying Luo, Yanjie Zhao, Yun Liu, Xiancong Huang, Yuchao Xia, Jinlin Hu, Joel S Parker, David Marron, Qionghua Cui, Linna Peng, Jiahui Chu, Hongmin Li, Zhongli Du, Yaling Han, Wen Tan, Zhihua Liu, Qimin Zhan, Yun Li, Weimin Mao, Chen Wu, Dongxin Lin
Approximately half of the world's 500,000 new oesophageal squamous-cell carcinoma (ESCC) cases each year occur in China. Here, we show whole-genome sequencing of DNA and RNA in 94 Chinese individuals with ESCC. We identify six mutational signatures (E1-E6), and Signature E4 is unique in ESCC linked to alcohol intake and genetic variants in alcohol-metabolizing enzymes. We discover significantly recurrent mutations in 20 protein-coding genes, 4 long non-coding RNAs and 10 untranslational regions. Functional analyses show six genes that have recurrent copy-number variants in three squamous-cell carcinomas (oesophageal, head and neck and lung) significantly promote cancer cell proliferation, migration and invasion...
May 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28548103/an-aavp-based-solid-phase-transducing-matrix-for-transgene-delivery-potential-for-translational-applications
#11
T L Smith, G R Souza, R L Sidman, W Arap, R Pasqualini
A hybrid vector of adeno-associated virus and phage (termed AAVP) has been introduced as a platform for systemic ligand-directed delivery of transgenes to tumors over the past decade. A series of studies have evaluated the AAVP platform for potential theranostic or purely therapeutic applications in several tumor models. Sufficient ligand-directed tumor targeting consistently resulted in specific molecular-genetic imaging and/or anti-tumor responses to 'suicide' transgene delivery. However, efforts to optimize transduction efficiency are still ongoing...
May 26, 2017: Cancer Gene Therapy
https://www.readbyqxmd.com/read/28547940/cytotoxic-activity-of-propolis-extracts-from-the-stingless-bee-trigona-sirindhornae-against-primary-and-metastatic-head-and-neck-cancer-cell-lines
#12
Kusumawadee Utispan, Bordin Chitkul, Sittichai Koontongkaew
Background: Propolis, a resinous substance produced by the honeybee, has a wide spectrum of potent biological activities. However, anti-cancer activity of propolis obtained from Trigona sirindhornae, a new species of stingless bee, has not yet been reported. This study concerned cytotoxicity of propolis extracts from T. sirindhornae against two head and neck squamous cell carcinoma (HNSCC) cell lines. Materials and Methods: A dichloromethane extract of propolis (DMEP) was prepared generating 3 fractions: DMEP-A, DMEP-B, and DMEP-C...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28547805/quality-and-impact-of-eviq-cancer-treatments-online-www-eviq-org-au-the-medical-oncologist-s-perspective
#13
Lydia P Y Loke, Tina Y T Chen, Craig R Lewis, Robyn L Ward, Shelley A Rushton, Jeremy D Shapiro
INTRODUCTION: eviQ Cancer Treatments Online is a free, web-based resource providing access to over 600 evidence-based treatment protocols in medical oncology, radiation oncology, hematology and cancer genetics. With over 60 000 registrants from 148 countries, eviQ is widely used by cancer clinicians globally. The aim of this study was to examine the perceived quality of eviQ by Australian medical oncologists, the impact it had on their knowledge and practice, and the effect it had on their patients...
May 25, 2017: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28547663/pediatric-predispositional-genetic-risk-communication-potential-utility-for-prevention-and-control-of-melanoma-risk-as-an-exemplar
#14
Yelena P Wu, Darren Mays, Wendy Kohlmann, Kenneth P Tercyak
Predispositional genetic testing among minor children is intensely debated due to the potential benefits and harms of providing this type of genetic information to children and their families. Existing guidelines on pediatric genetic testing state that predispositional testing could be appropriate for minors if preventive services exist that mitigate children's risk for or severity of the health condition in question. We use the example of hereditary melanoma to illustrate the rationale for and potential application of genetic risk communication for an adult-onset cancer to a pediatric population where childhood behaviors may reduce risk of disease later in life...
May 25, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28547076/purinergic-signaling-during-intestinal-inflammation
#15
REVIEW
Maria Serena Longhi, Alan Moss, Zhenghui Gordon Jiang, Simon C Robson
Inflammatory bowel disease (IBD) is a devastating disease that is associated with excessive inflammation in the intestinal tract in genetically susceptible individuals and potentially triggered by microbial dysbiosis. This illness markedly predisposes patients to thrombophilia and chronic debility as well as bowel, lymphatic, and liver cancers. Development of new therapies is needed to re-establish long-term immune tolerance in IBD patients without increasing the risk of opportunistic infections and cancer...
May 26, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28546954/pleiotropic-cytotoxicity-of-vaca-toxin-in-host-cells-and-its-impact-on-immunotherapy
#16
REVIEW
Farnaz Fahimi, Mohammad Reza Tohidkia, Mehdi Fouladi, Reza Aghabeygi, Naser Samadi, Yadollah Omidi
Introduction: In the recent decades, a number of studies have highlighted the importance of Helicobacter pylori in the initiation and development of peptic ulcer and gastric cancer. Some potential virulence factors (e.g., urease, CagA, VacA, BabA) are exploited by this microorganism, facilitating its persistence through evading human defense mechanisms. Among these toxins and enzymes, vacuolating toxin A (VacA) is of a great importance in the pathogenesis of H. pylori. VacA toxin shows different pattern of cytotoxicity through binding to different cell surface receptors in various cells...
2017: BioImpacts: BI
https://www.readbyqxmd.com/read/28546913/genetic-assembly-of-double-layered-fluorescent-protein-nanoparticles-for-cancer-targeting-and-imaging
#17
Seong-Eun Kim, Sung Duk Jo, Koo Chul Kwon, You-Yeon Won, Jeewon Lee
Hepatitis B virus capsid (HBVC), a self-assembled protein nanoparticle comprised of 180 or 240 subunit proteins, is used as a cage for genetic encapsulation of fluorescent proteins (FPs). The self-quenching of FPs is controlled by varying the spacing between FPs within the capsid structure. Double-layered FP nanoparticle possessing cancer cell-targeting capabilities is also produced by additionally attaching FPs and cancer cell receptor-binding peptides (affibodies) to the outer surface of the capsid. The generically modified HBVC with double layers of mCardinal FPs and affibodies (mC-DL-HBVC) exhibit a high fluorescence intensity and a strong photostability, and is efficiently internalized by cancer cells and significantly stable against intracellular degradation...
May 2017: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/28546853/caveolin-1-an-oxidative-stress-related-target-for-cancer-prevention
#18
REVIEW
Shengqi Wang, Neng Wang, Yifeng Zheng, Jin Zhang, Fengxue Zhang, Zhiyu Wang
Aberrant oxidative metabolism is one of the hallmarks of cancer. Reactive species overproduction could promote carcinogenesis via inducing genetic mutations and activating oncogenic pathways, and thus, antioxidant therapy was considered as an important strategy for cancer prevention and treatment. Caveolin-1 (Cav-1), a constituent protein of caveolae, has been shown to mediate tumorigenesis and progression through oxidative stress modulation recently. Reactive species could modulate the expression, degradation, posttranslational modifications, and membrane trafficking of Cav-1, while Cav-1-targeted treatments could scavenge the reactive species...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28546787/pepsinogen-c-expression-regulation-and-its-relationship-with-cancer
#19
REVIEW
Shixuan Shen, Jingyi Jiang, Yuan Yuan
Pepsinogen C (PGC) belongs to the aspartic protease family and is secreted by gastric chief cells. PGC could be activated to pepsin C and digests polypeptides and amino acids, but as a zymogen PGC's functions is unclear. In normal physiological conditions, PGC is initially detected in the late embryonic stage and is mainly expressed in gastric mucosa. The in situ expression of PGC in gastric mucosa is decreased considerably in the process of superficial gastritis → atrophic gastritis → gastric cancer (GC), proving that PGC is a comparatively ideal negative marker of GC...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28546520/-omic-approach-in-non-smoker-female-with-lung-squamous-cell-carcinoma-pinpoints-to-germline-susceptibility-and-personalized-medicine
#20
Margherita Baldassarri, Chiara Fallerini, Francesco Cetta, Marco Ghisalberti, Cristiana Bellan, Simone Furini, Ottavia Spiga, Sergio Crispino, Giuseppe Gotti, Francesca Ariani, Piero Paladini, Alessandra Renieri, Elisa Frullanti
Purpose: Lung cancer is strongly associated to tobacco smoking. However, global statistics estimate that in females the proportion of lung cancer cases that is unrelated to tobacco smoking reaches fifty percent, making questionable the etiology of the disease. Materials and Methods: A never-smoker female with primary EGFR/KRAS/ALK-negative squamous cell carcinoma of the lung and their normal sibs were subjected to a novel integrative "omic" approach using a pedigree-based model for discovering genetic factors leading to cancer in the absence of well-known environmental trigger...
May 26, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
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