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Genetics, genomics and epigenetics

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.

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  1. 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

    Content type: Research article

    Published on:

  2. 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

    Content type: Research article

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  3. 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

    Content type: Research article

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  4. 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

    Content type: Research article

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  5. 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

    Content type: Research article

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  6. 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

    Content type: Research article

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  7. 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

    Content type: Research article

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  8. 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

    Content type: Research article

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  9. 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

    Content type: Research article

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  10. 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

    Content type: Research article

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  11. 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

    Content type: Research article

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  12. 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

    Content type: Research article

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  13. 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

    Content type: Research article

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  14. 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

    Content type: Research article

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  15. 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

    Content type: Research article

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  16. 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

    Content type: Research article

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  17. 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

    Content type: Research article

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  18. 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

    Content type: Research article

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  19. 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

    Content type: Research article

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  20. 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

    Content type: Technical advance

    Published on:

  21. 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

    Content type: Research article

    Published on:

  22. 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

    Content type: Research article

    Published on:

  23. 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

    Content type: Research article

    Published on:

  24. 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

    Content type: Research article

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  25. 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

    Content type: Research article

    Published on:

  26. 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

    Content type: Research article

    Published on:

  27. 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

    Content type: Research article

    Published on:

  28. 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

    Content type: Research article

    Published on:

  29. 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

    Content type: Research article

    Published on:

  30. 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

    Content type: Research article

    Published on:

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