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Genetics, genomics and epigenetics

Section edited by Ian Cree

This section considers articles on all aspects of genome-scale analysis, functional genomics, genetic association studies, pharmacogenomics and epigenetics in relation to cancer biology, diagnosis and therapy.

Page 14 of 14

  1. Content type: Research article

    The anti-infective agent Taurolidine (TRD) has been shown to have cell death inducing properties, but the mechanism of its action is largely unknown. The aim of this study was to identify potential common targ...

    Authors: Ansgar M Chromik, Stephan A Hahn, Adrien Daigeler, Annegret Flier, Daniel Bulut, Christina May, Kamran Harati, Jan Roschinsky, Dominique Sülberg, Dirk Weyhe, Ulrich Mittelkötter and Waldemar Uhl

    Citation: BMC Cancer 2010 10:595

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  2. Content type: Research article

    NORE1 (RASSF5) is a newly described member of the RASSF family with Ras effector function. NORE1 expression is frequently inactivated by aberrant promoter hypermethylation in many human cancers, suggesting that N...

    Authors: Chang Kyun Lee, Jin-Hee Lee, Min-Goo Lee, Seong-In Jeong, Tae-Kyu Ha, Min-Ju Kang, Byung-Kyu Ryu, Young Hwangbo, Jae-Jun Shim, Jae Young Jang, Kil Yeon Lee, Hyo Jong Kim and Sung-Gil Chi

    Citation: BMC Cancer 2010 10:577

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  3. Content type: Research article

    An estimated 12% of females in the United States will develop breast cancer in their lifetime. Although, there are advances in treatment options including surgery and chemotherapy, breast cancer is still the s...

    Authors: Jeffrey C Miecznikowski, Dan Wang, Song Liu, Lara Sucheston and David Gold

    Citation: BMC Cancer 2010 10:573

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  4. Content type: Research article

    Telomerase activation, a critical step in cell immortalization and oncogenesis, is partly regulated by alternative splicing. In this study, we aimed to use the Marek's disease virus (MDV) T-cell lymphoma model...

    Authors: Souheila Amor, Sylvie Remy, Ginette Dambrine, Yves Le Vern, Denis Rasschaert and Sylvie Laurent

    Citation: BMC Cancer 2010 10:571

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  5. Content type: Research article

    Numerous studies reported genomic alterations in colorectal human tumors but few focused on rectal tumors with the specification of preoperative-treated or untreated tumors. The goals of this study were to lis...

    Authors: Benoît Romain, Agnès Neuville, Nicolas Meyer, Cécile Brigand, Serge Rohr, Anne Schneider, Marie-Pierre Gaub and Dominique Guenot

    Citation: BMC Cancer 2010 10:561

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  6. Content type: Research article

    Gastrointestinal stromal tumors (GISTs) are common mesenchymal neoplasms in the gastrointestinal tract of humans and dogs. Little is known about the pathogenesis of these tumors. This study evaluated the role of

    Authors: Emmalena Gregory-Bryson, Elizabeth Bartlett, Matti Kiupel, Schantel Hayes and Vilma Yuzbasiyan-Gurkan

    Citation: BMC Cancer 2010 10:559

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  7. Content type: Research article

    Whether a systemic adjuvant treatment is needed is an area of controversy in patients with node-negative early breast cancer with tumor size of ≤1 cm, including T1mic.

    Authors: Ji Hyun Kwon, Yu Jung Kim, Keun-Wook Lee, Do-Youn Oh, So Yeon Park, Jee Hyun Kim, Eui Kyu Chie, Sung-Won Kim, Seock-Ah Im, In-Ah Kim, Tae-You Kim, In Ae Park, Dong-Young Noh, Yung-Jue Bang and Sung Whan Ha

    Citation: BMC Cancer 2010 10:557

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  8. Content type: Research article

    Early metastasis and infiltration are survival limiting characteristics of pancreatic ductal adenocarcinoma (PDAC). Thus, PDAC is likely to harbor alterations in metastasis suppressor genes that may provide no...

    Authors: Wolf A Mardin, Kostadin O Petrov, Andreas Enns, Norbert Senninger, Joerg Haier and Soeren T Mees

    Citation: BMC Cancer 2010 10:549

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  9. Content type: Research article

    Claudin-1 is a membrane protein of tight junctions, and is associated with the development of various cancers. However, the significance of claudin-1 expression in cancer cells is not well understood. Here, we...

    Authors: Harue Akasaka, Fuyuki Sato, Satoko Morohashi, Yunyan Wu, Yang Liu, Jun Kondo, Hiroki Odagiri, Kenichi Hakamada and Hiroshi Kijima

    Citation: BMC Cancer 2010 10:548

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  10. Content type: Research article

    p27 is a cell cycle suppressor gene, whose protein is a negative regulator of cyclin/cdk complexes. p27 is also a potential target of retinoids in cancer prevention studies. In benign prostate hyperplasia (BPH...

    Authors: Winna Taylor, Amanda Mathias, Arshia Ali, Hengning Ke, Nikolay Stoynev, Anne Shilkaitis, Albert Green, Hiroaki Kiyokawa and Konstantin Christov

    Citation: BMC Cancer 2010 10:541

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  11. Content type: Research article

    Around 20% of breast cancers (BC) show ERBB2 gene amplification and overexpression of the ERBB2 tyrosine kinase receptor. They are associated with a poor prognosis but can benefit from targeted therapy. A better ...

    Authors: Fabrice Sircoulomb, Ismahane Bekhouche, Pascal Finetti, José Adélaïde, Azza Ben Hamida, Julien Bonansea, Stéphane Raynaud, Charlène Innocenti, Emmanuelle Charafe-Jauffret, Carole Tarpin, Farhat Ben Ayed, Patrice Viens, Jocelyne Jacquemier, François Bertucci, Daniel Birnbaum and Max Chaffanet

    Citation: BMC Cancer 2010 10:539

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  12. Content type: Research article

    Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. The serum total homocysteine (...

    Authors: Viktor Komlósi, Erika Hitre, Éva Pap, Vilmos Adleff, Andrea Réti, Éva Székely, Anna Bíró, Péter Rudnai, Bernadette Schoket, Judit Müller, Béla Tóth, Szabolcs Ottó, Miklós Kásler, Judit Kralovánszky and Barna Budai

    Citation: BMC Cancer 2010 10:525

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  13. Content type: Research article

    Genetic factors related to the regulation of apoptosis in schizophrenia patients may be involved in a reduced vulnerability to cancer. XRCC4 is one of the potential candidate genes associated with schizophreni...

    Authors: Yang Wang, Lei Wang, Xingwang Li, Baocheng Liu, Qingzhu Zhao, Peng Chen, Ti Wang, Tao Li, Jue Ji, Fengping Yang, Quan Wang, Jinfen Wang, Yanzeng Xiao, Yifeng Xu, Guoyin Feng, Zhihai Peng…

    Citation: BMC Cancer 2010 10:523

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  14. Content type: Research article

    As a key gene in the immunosurveillance of cell malignancy, Cytotoxic T-lymphocyte antigen 4 (CTLA-4 is an important negative regulator of T cell activation and proliferation. The CTLA-4 +49G > A polymorphism ...

    Authors: Jian Zheng, Xiao Yu, Lan Jiang, Mang Xiao, Bing Bai, Jiachun Lu and Yifeng Zhou

    Citation: BMC Cancer 2010 10:522

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  15. Content type: Research article

    Abnormalities of 11q23 involving the MLL gene are found in approximately 10% of human leukemias. To date, nearly 100 different chromosome bands have been described in rearrangements involving 11q23 and 64 fusion ...

    Authors: Nuno Cerveira, Claus Meyer, Joana Santos, Lurdes Torres, Susana Lisboa, Manuela Pinheiro, Susana Bizarro, Cecília Correia, Lucília Norton, Rolf Marschalek and Manuel R Teixeira

    Citation: BMC Cancer 2010 10:518

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  16. Content type: Research article

    Epigenetic inactivation of tumor suppressor genes (TSG) by promoter CpG island hypermethylation is a hallmark of cancer. To assay its extent in human lymphoma, methylation of 24 TSG was analyzed in lymphoma-de...

    Authors: Sonja Eberth, Björn Schneider, Andreas Rosenwald, Elena M Hartmann, Julia Romani, Margarete Zaborski, Reiner Siebert, Hans G Drexler and Hilmar Quentmeier

    Citation: BMC Cancer 2010 10:517

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  17. Content type: Research article

    Mutations in FLT3 result in activated tyrosine kinase activity, cell growth stimulation, and a poor prognosis among various subtypes of leukemia. The causes and timing of the mutations are not currently known. We...

    Authors: Patrick Chang, Michelle Kang, Anny Xiao, Jeffrey Chang, James Feusner, Patricia Buffler and Joseph Wiemels

    Citation: BMC Cancer 2010 10:513

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  18. Content type: Research article

    Hyaluronan accumulation correlates with the degree of malignancy in many solid tumor types, including malignant endometrial carcinomas. To elucidate the mechanism of hyaluronan accumulation, we examined the ex...

    Authors: Timo K Nykopp, Kirsi Rilla, Markku I Tammi, Raija H Tammi, Reijo Sironen, Kirsi Hämäläinen, Veli-Matti Kosma, Seppo Heinonen and Maarit Anttila

    Citation: BMC Cancer 2010 10:512

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  19. Content type: Research article

    The selection of patients according to key genetic characteristics may help to tailor chemotherapy and optimize the treatment in Castration-Resistant Prostate Cancer (CRPC) patients. Functional polymorphisms w...

    Authors: Ilaria Pastina, Elisa Giovannetti, Aldo Chioni, Tristan M Sissung, Francesco Crea, Cinzia Orlandini, Douglas K Price, Claudia Cianci, William D Figg, Sergio Ricci and Romano Danesi

    Citation: BMC Cancer 2010 10:511

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  20. Content type: Research article

    Osteosarcoma (OSA) spontaneously arises in the appendicular skeleton of large breed dogs and shares many physiological and molecular biological characteristics with human OSA. The standard treatment for OSA in...

    Authors: Liza E O'Donoghue, Andrey A Ptitsyn, Debra A Kamstock, Janet Siebert, Russell S Thomas and Dawn L Duval

    Citation: BMC Cancer 2010 10:506

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  21. Content type: Research article

    The cortical cytoskeleton network connects the actin cytoskeleton to various membrane proteins, influencing cell adhesion, polarity, migration and response to extracellular signals. Previous studies have sugge...

    Authors: Wolfgang A Schulz, Marc Ingenwerth, Carolle E Djuidje, Christiane Hader, Jörg Rahnenführer and Rainer Engers

    Citation: BMC Cancer 2010 10:505

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  22. Content type: Research article

    Fibronectin 1 (FN1) is a glycoprotein involved in cellular adhesion and migration processes. The aim of this study was to elucidate the role of FN1 in development of renal cell cancer (RCC) and to determine a pro...

    Authors: Sandra Waalkes, Faranaz Atschekzei, Mario W Kramer, Jörg Hennenlotter, Gesa Vetter, Jan U Becker, Arnulf Stenzl, Axel S Merseburger, Andres J Schrader, Markus A Kuczyk and Jürgen Serth

    Citation: BMC Cancer 2010 10:503

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  23. Content type: Research article

    The involvement of miRNAs in the regulation of fundamental cellular functions has placed them at the fore of ongoing investigations into the processes underlying carcinogenesis. MiRNA expression patterns have ...

    Authors: Aoife J Lowery, Nicola Miller, Roisin M Dwyer and Michael J Kerin

    Citation: BMC Cancer 2010 10:502

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  24. Content type: Research article

    BRCA1 gene inactivation causes chromosomal instability, leading to rapid accumulation of chromosomal rearrangements and mutations. The loss of BRCA1 function due to either germline/somatic mutation or epigenet...

    Authors: Manohar Pradhan, Björn Å Risberg, Claes G Tropé, Matt van de Rijn, C Blake Gilks and Cheng-Han Lee

    Citation: BMC Cancer 2010 10:493

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  25. Content type: Research article

    Members of the ErbB family of growth factor receptors are intricately linked with epithelial cell biology, development and tumourigenesis; however, the mechanisms involved in their downstream signalling are po...

    Authors: Jenny Worthington, Mariana Bertani, Hong-Lin Chan, Bertran Gerrits and John F Timms

    Citation: BMC Cancer 2010 10:490

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  26. Content type: Research article

    Cytochrome P450-based suicide gene therapy for cancer using prodrugs such as cyclophosphamide (CPA) increases anti-tumor activity, both directly and via a bystander killing mechanism. Bystander cell killing is es...

    Authors: Joshua C Doloff, Ting Su and David J Waxman

    Citation: BMC Cancer 2010 10:487

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  27. Content type: Research article

    Transcription factors and nuclear receptors constitute a link between exposure to heterocyclic amines and polycyclic aromatic hydrocarbons from meat and tobacco smoke and colorectal cancer (CRC) risk. The aim ...

    Authors: Vibeke Andersen, Jane Christensen, Kim Overvad, Anne Tjønneland and Ulla Vogel

    Citation: BMC Cancer 2010 10:484

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  28. Content type: Research article

    The cytokine-induced anti-apoptotic molecule (CIAPIN1) had been found to be a differentially-expressed gene involved in a variety of cancers, and it was also considered as a candidate tumour suppressor gene in...

    Authors: Hai Shi, Yi Zhou, Heliang Liu, Changsheng Chen, Shujun Li, Nanlin Li, Xiaohua Li, Xi Zhang, Hongwei Zhang, Weizhong Wang and Qingchuan Zhao

    Citation: BMC Cancer 2010 10:477

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  29. Content type: Research article

    Human neuroblastoma (NB) cell lines may present with either one of the so-called S-and N-subtypes. We have previously reported a strong correlation between protein expression levels of vimentin, an S-subtype m...

    Authors: Xénia Mergui, Marie-Line Puiffe, Dominique Valteau-Couanet, Marc Lipinski, Jean Bénard and Mounira Amor-Guéret

    Citation: BMC Cancer 2010 10:473

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  30. Content type: Research article

    Chondrosarcomas are malignant cartilage tumors that do not respond to traditional chemotherapy or radiation. The 5-year survival rate of histologic grade III chondrosarcoma is less than 30%. An animal model of...

    Authors: Christopher A Hamm, Jeff W Stevens, Hehuang Xie, Elio F Vanin, Jose A Morcuende, Hakeem Abdulkawy, Elisabeth A Seftor, Simone T Sredni, Jared M Bischof, Deli Wang, Sergey Malchenko, Maria de Fatima Bonaldo, Thomas L Casavant, Mary JC Hendrix and Marcelo B Soares

    Citation: BMC Cancer 2010 10:471

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  31. Content type: Research article

    Severe toxicity to 5-fluorouracil (5-FU) based chemotherapy in gastrointestinal cancer has been associated with constitutional genetic alterations of the dihydropyrimidine dehydrogenase gene (DPYD).

    Authors: Joana Savva-Bordalo, João Ramalho-Carvalho, Manuela Pinheiro, Vera L Costa, Ângelo Rodrigues, Paula C Dias, Isabel Veiga, Manuela Machado, Manuel R Teixeira, Rui Henrique and Carmen Jerónimo

    Citation: BMC Cancer 2010 10:470

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  32. Content type: Research article

    Glioblastoma multiforme (GBM) is refractory to conventional therapies. To overcome the problem of heterogeneity, more brain tumor markers are required for prognosis and targeted therapy. We have identified and...

    Authors: Chien-Tsun Kuan, Kenji Wakiya, James E Herndon II, Eric S Lipp, Charles N Pegram, Gregory J Riggins, Ahmed Rasheed, Scott E Szafranski, Roger E McLendon, Carol J Wikstrand and Darell D Bigner

    Citation: BMC Cancer 2010 10:468

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  33. Content type: Research article

    Prognostic factors in patients who are diagnosed with T4 breast carcinomas are widely awaited. We here evaluated the clinical role of some molecular alterations involved in tumorigenesis in a well-characterize...

    Authors: Bruno Massidda, MariaCristina Sini, Mario Budroni, Francesco Atzori, MariaCristina Deidda, Valeria Pusceddu, MariaTeresa Perra, Paola Sirigu, Antonio Cossu, Grazia Palomba, MariaTeresa Ionta and Giuseppe Palmieri

    Citation: BMC Cancer 2010 10:458

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  34. Content type: Research article

    Genomic gains and losses are a result of genomic instability in many types of cancers. BRCA1- and BRCA2-mutated breast cancers are associated with increased amounts of chromosomal aberrations, presumably due thei...

    Authors: Henne Holstege, Erik van Beers, Arno Velds, Xiaoling Liu, Simon A Joosse, Sjoerd Klarenbeek, Eva Schut, Ron Kerkhoven, Christiaan N Klijn, Lodewyk FA Wessels, Petra M Nederlof and Jos Jonkers

    Citation: BMC Cancer 2010 10:455

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  35. Content type: Research article

    Gliomas are the most common type of primary brain tumours, and in this group glioblastomas (GBMs) are the higher-grade gliomas with fast progression and unfortunate prognosis. Two major aspects of glioma biolo...

    Authors: Juan L Garcia, Maria Perez-Caro, Juan A Gomez-Moreta, Francisco Gonzalez, Javier Ortiz, Oscar Blanco, Magdalena Sancho, Jesus M Hernandez-Rivas, Rogelio Gonzalez-Sarmiento and Manuel Sanchez-Martin

    Citation: BMC Cancer 2010 10:454

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  36. Content type: Research article

    MUTYH-associated polyposis (MAP) is a disorder caused by bi-allelic germline MUTYH mutation, characterized by multiple colorectal adenomas. In order to identify mutations in MUTYH gene we applied High Resolution...

    Authors: Isabel López-Villar, Rosa Ayala, Jan Wesselink, Juan Diego Morillas, Elena López, José Carlos Marín, José Díaz-Tasende, Sara González, Luis Robles and Joaquín Martínez-López

    Citation: BMC Cancer 2010 10:408

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  37. Content type: Research article

    Gene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.

    Authors: Julien Rocquain, Nadine Carbuccia, Virginie Trouplin, Stéphane Raynaud, Anne Murati, Meyer Nezri, Zoulika Tadrist, Sylviane Olschwang, Norbert Vey, Daniel Birnbaum, Véronique Gelsi-Boyer and Marie-Joelle Mozziconacci

    Citation: BMC Cancer 2010 10:401

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  38. Content type: Technical advance

    HER2 gene copy status, and concomitant administration of trastuzumab (Herceptin), remains one of the best examples of targeted cancer therapy based on understanding the genomic etiology of disease. However, newl...

    Authors: Shelly Gunn, I-Tien Yeh, Irina Lytvak, Budi Tirtorahardjo, Natasha Dzidic, Soheila Zadeh, Jaeweon Kim, Chris McCaskill, Lony Lim, Mercedes Gorre and Mansoor Mohammed

    Citation: BMC Cancer 2010 10:396

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  39. Content type: Research article

    The hTERT (human telomerase reverse transcriptase) gene contains five variable number tandem repeats (VNTR) and previous studies have described polymorphisms for hTERT-VNTR2-2nd. We investigated how allelic varia...

    Authors: Se-Lyun Yoon, Se-Il Jung, Eun-Ju Do, Se-Ra Lee, Sang-Yeop Lee, In-Sun Chu, Wun-Jae Kim, Jaeil Jung, Choung Soo Kim, Sang-Hyeon Cheon and Sun-Hee Leem

    Citation: BMC Cancer 2010 10:393

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  40. Content type: Research article

    Endometrial cancer is the most common gynaecological malignancy in women of developed countries. Many risk factors implicated in endometrial cancer trigger inflammatory events; therefore, alterations in immune...

    Authors: Katie A Ashton, Anthony Proietto, Geoffrey Otton, Ian Symonds, Mark McEvoy, John Attia and Rodney J Scott

    Citation: BMC Cancer 2010 10:382

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  41. Content type: Research article

    Metastasis represents a major adverse step in the progression of breast carcinoma. Lymph node invasion is the most relevant prognostic factor; however little is known on the molecular events associated with ly...

    Authors: Weiwei Feng, Rosaria Orlandi, Naiqing Zhao, Maria Luisa Carcangiu, Elda Tagliabue, Jia Xu, Robert C Bast Jr and Yinhua Yu

    Citation: BMC Cancer 2010 10:378

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  42. Content type: Research article

    According to the different sensitivity of their bone marrow CD34+ cells to in vitro treatment with Etoposide or Mafosfamide, Acute Myeloid Leukaemia (AML) patients in apparent complete remission (CR) after chemot...

    Authors: Marco Ragusa, Giuseppe Avola, Rosario Angelica, Davide Barbagallo, Maria Rosa Guglielmino, Laura R Duro, Alessandra Majorana, Luisa Statello, Loredana Salito, Carla Consoli, Maria Grazia Camuglia, Cinzia Di Pietro, Giuseppe Milone and Michele Purrello

    Citation: BMC Cancer 2010 10:377

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  43. Content type: Research article

    DNA methylation and histone acetylation are epigenetic modifications that act as regulators of gene expression. Aberrant epigenetic gene silencing in tumours is a frequent event, yet the factors which dictate ...

    Authors: David Mossman, Kyu-Tae Kim and Rodney J Scott

    Citation: BMC Cancer 2010 10:366

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  44. Content type: Research article

    Modulation of pre-mRNA splicing by antisense molecules is a promising mechanism of action for gene therapeutic drugs. In this study, we have examined the potential of peptide nucleic acid (PNA) 9-aminoacridine...

    Authors: Takehiko Shiraishi, Jonhard Eysturskarð and Peter E Nielsen

    Citation: BMC Cancer 2010 10:342

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  45. Content type: Research article

    The HMGA2 gene, coding for an architectural transcription factor involved in mesenchymal embryogenesis, is frequently deranged by translocation and/or amplification in mesenchymal tumours, generally leading to...

    Authors: Jørn Henriksen, Marianne Stabell, Leonardo A Meza-Zepeda, Silje AU Lauvrak, Moustapha Kassem and Ola Myklebost

    Citation: BMC Cancer 2010 10:329

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  46. Content type: Research article

    Genome wide association studies (GWAS) have identified several genetic variants that are associated with prostate cancer. Most of these variants, like other GWAS association signals, are located in non-coding ...

    Authors: Lorna W Harries, John RB Perry, Paul McCullagh and Malcolm Crundwell

    Citation: BMC Cancer 2010 10:315

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  47. Content type: Research article

    Microsatellite instability (MSI) occurs in 15% of colorectal cancers (CRC). The genetic targets for mutation in the MSI phenotype include somatic mutations in the transforming growth factor beta receptor typeII (...

    Authors: Masakazu Yashiro, Kosei Hirakawa and C Richard Boland

    Citation: BMC Cancer 2010 10:303

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  48. Content type: Research article

    Epigenetic aberrations and a CpG island methylator phenotype have been shown to be associated with poor outcomes in children with neuroblastoma (NB). Seven cancer related genes (THBS-1, CASP8, HIN-1, TIG-1, BLU, ...

    Authors: Qiwei Yang, Yufeng Tian, Kelly R Ostler, Alexandre Chlenski, Lisa J Guerrero, Helen R Salwen, Lucy A Godley and Susan L Cohn

    Citation: BMC Cancer 2010 10:286

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