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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 right drug to the right patient at the right time is one of the ideals of Individualized Medicine (IM) and remains one of the most compelling promises of the post-genomic age. The addition of genomic infor...

    Authors: Michael T. Zimmermann, Terry M. Therneau and Jean-Pierre A. Kocher

    Citation: BMC Cancer 2018 18:577

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  2. Content type: Case report

    Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressi...

    Authors: Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai and Kokichi Sugano

    Citation: BMC Cancer 2018 18:576

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  3. Content type: Research article

    Immune surveillance acts as a defense mechanism in cancer, and its disruption is involved in cancer progression. DNA methylation reflects the phenotypic identity of cells and recent data suggested that DNA met...

    Authors: Surabhi Parashar, David Cheishvili, Niaz Mahmood, Ani Arakelian, Imrana Tanvir, Haseeb Ahmed Khan, Richard Kremer, Catalin Mihalcioiu, Moshe Szyf and Shafaat A. Rabbani

    Citation: BMC Cancer 2018 18:574

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  4. Content type: Research article

    Multiple myeloma (MM), like other cancers, is caused by the accumulation of genetic abnormalities. Heterogeneity exists in the patients’ response to treatments, for example, bortezomib. This urges efforts to i...

    Authors: Xinyan Zhang, Bingzong Li, Huiying Han, Sha Song, Hongxia Xu, Yating Hong, Nengjun Yi and Wenzhuo Zhuang

    Citation: BMC Cancer 2018 18:551

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  5. Content type: Research article

    Several studies have reported the role of CYP2A6 genetic polymorphisms in smoking and lung cancer risk with some contradictory results in different populations. The purpose of the current study is to assess th...

    Authors: Nada Ezzeldin, Dalia El-Lebedy, Amira Darwish, Ahmed El Bastawisy, Shereen Hamdy Abd Elaziz, Mirhane Mohamed Hassan and Amal Saad-Hussein

    Citation: BMC Cancer 2018 18:525

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  6. Content type: Research article

    Colorectal cancer (CRC) is a leading cause of cancer-related death. The biologic response of CRC to standard of care adjuvant therapies such as chemotherapy and radiation are poorly understood. MicroRNAs (miRs...

    Authors: Rebecca Ruhl, Shushan Rana, Katherine Kelley, Cristina Espinosa-Diez, Clayton Hudson, Christian Lanciault, Charles R. Thomas Jr, V. Liana Tsikitis and Sudarshan Anand

    Citation: BMC Cancer 2018 18:517

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  7. Content type: Research article

    Somatic amplifications of the LYL1 gene are relatively common occurrences in patients who develop uterine corpus endometrial carcinoma (UCEC) as opposed to other cancers. This study was undertaken to determine wh...

    Authors: Se Ik Kim, Ji Won Lee, Nara Lee, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song and Jeong-Sun Seo

    Citation: BMC Cancer 2018 18:494

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  8. Content type: Research article

    The relationship between cholesterol and prostate cancer has been extensively studied for decades, where high levels of cellular cholesterol are generally associated with cancer progression and less favorable ...

    Authors: Morten Beck Rye, Helena Bertilsson, Maria K. Andersen, Kjersti Rise, Tone F. Bathen, Finn Drabløs and May-Britt Tessem

    Citation: BMC Cancer 2018 18:478

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  9. Content type: Research article

    Cetuximab, an anti-EGFR monoclonal antibody, is used in combination with chemotherapy in clinic to enhance the outcome in metastatic colorectal cancer (mCRC) patients with only ~ 20% response rate. To date onl...

    Authors: Zhu Mei, Yang W. Shao, Peinan Lin, Xiaomin Cai, Biao Wang, Yan Ding, Xiangyuan Ma, Xue Wu, Yewei Xia, Dongqin Zhu, Yongqian Shu, Zan Fu and Yanhong Gu

    Citation: BMC Cancer 2018 18:479

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  10. Content type: Study protocol

    Advances in genomics offer promise for earlier detection or prevention of cancer, by personalisation of medical care tailored to an individual’s genomic risk status. However genome sequencing can generate an u...

    Authors: Megan Best, Ainsley J. Newson, Bettina Meiser, Ilona Juraskova, David Goldstein, Kathy Tucker, Mandy L. Ballinger, Dominique Hess, Timothy E. Schlub, Barbara Biesecker, Richard Vines, Kate Vines, David Thomas, Mary-Anne Young, Jacqueline Savard, Chris Jacobs…

    Citation: BMC Cancer 2018 18:454

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  11. Content type: Research article

    DNA damage repair is a complex process, which can trigger the development of cancer if disturbed. In this study, we hypothesize a role of variants in the ATM, H2AFX and MRE11 genes in determining breast cancer (B...

    Authors: Marta Podralska, Iwona Ziółkowska-Suchanek, Magdalena Żurawek, Agnieszka Dzikiewicz-Krawczyk, Ryszard Słomski, Jerzy Nowak, Agnieszka Stembalska, Karolina Pesz and Maria Mosor

    Citation: BMC Cancer 2018 18:452

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  12. Content type: Research article

    Several studies in the past have investigated the expression of micro RNAs (miRNAs) in saliva as potential biomarkers. Since miRNAs associated with extracellular vesicles (EVs) are known to be protected from e...

    Authors: Chiara Gai, Francesco Camussi, Roberto Broccoletti, Alessio Gambino, Marco Cabras, Luca Molinaro, Stefano Carossa, Giovanni Camussi and Paolo G. Arduino

    Citation: BMC Cancer 2018 18:439

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  13. Content type: Research article

    Precursor T-cell lymphoblastic lymphomas (T-LBL) are rare aggressive hematological malignancies that mainly develop in children. As in other cancers, the loss of cell cycle control plays a prominent role in th...

    Authors: Pilar López-Nieva, Pablo Fernández-Navarro, Concepción Vaquero-Lorenzo, María Villa-Morales, Osvaldo Graña-Castro, María Ángeles Cobos-Fernández, José Luis López-Lorenzo, Pilar Llamas, Laura González-Sanchez, Isabel Sastre, Marina Pollan, Marcos Malumbres, Javier Santos and José Fernández-Piqueras

    Citation: BMC Cancer 2018 18:430

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  14. Content type: Research article

    Robust and precise molecular prognostic predictors for luminal breast cancer are required. This study aimed to identify key methylation sites in luminal breast cancer, as well as precise molecular tools for pr...

    Authors: Bin Xiao, Lidan Chen, Yongli Ke, Jianfeng Hang, Ling Cao, Rong Zhang, Weiyun Zhang, Yang Liao, Yang Gao, Jianyun Chen, Li Li, Wenbo Hao, Zhaohui Sun and Linhai Li

    Citation: BMC Cancer 2018 18:405

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  15. Content type: Study protocol

    Genomic sequencing in cancer (both tumour and germline), and development of therapies targeted to tumour genetic status, hold great promise for improvement of patient outcomes. However, the imminent introducti...

    Authors: Megan Best, Ainsley J. Newson, Bettina Meiser, Ilona Juraskova, David Goldstein, Kathy Tucker, Mandy L. Ballinger, Dominique Hess, Timothy E. Schlub, Barbara Biesecker, Richard Vines, Kate Vines, David Thomas, Mary-Anne Young, Jacqueline Savard, Chris Jacobs…

    Citation: BMC Cancer 2018 18:389

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  16. Content type: Research article

    Gene expression can be employed for the discovery of prognostic gene or multigene signatures cancer. In this study, we assessed the prognostic value of a 35-gene expression signature selected by pathway and ma...

    Authors: Azeez A. Fatai and Junaid Gamieldien

    Citation: BMC Cancer 2018 18:377

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  17. Content type: Case report

    Epstein-Barr virus positive peripheral T cell lymphoma (EBV + PTCL) is a rare type of lymphoproliferative disorder which is always present in late adulthood. However, pediatric EBV + PTCL is extremely rare and...

    Authors: Zihang Chen, Limin Gao, Mi Wang, Yuan Tang, Sha Zhao and Weiping Liu

    Citation: BMC Cancer 2018 18:373

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  18. Content type: Research article

    Giant Cell Tumour of Bone (GCT) is a locally aggressive primary bone tumour that usually occurs at the epiphyses of the long bones of the appendicular skeleton with a tendency to recurrence. Recurrent somatic H3F...

    Authors: Federica Scotto di Carlo, Giuseppina Divisato, Maurizio Iacoangeli, Teresa Esposito and Fernando Gianfrancesco

    Citation: BMC Cancer 2018 18:358

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