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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.

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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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