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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

    Cancer stem cells (CSCs) are considered to be the major factor in tumor initiation, progression, metastasis, recurrence and chemoresistance. Maintaining the stemness and promoting differentiation of these cell...

    Authors: Xiaofeng Yu, Lin Mi, Jie Dong and Jian Zou

    Citation: BMC Cancer 2017 17:716

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  2. Content type: Research article

    microRNAs are small non-protein-coding RNA molecules that regulate gene expression, and have a potential epigenetic role in disease progression and survival of colorectal cancer. In terms of tumor-normal expre...

    Authors: John R. Stevens, Jennifer S. Herrick, Roger K. Wolff and Martha L. Slattery

    Citation: BMC Cancer 2017 17:707

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  3. Content type: Research article

    Integrator complex subunit 6 (INTS6) was found to play a tumour suppressing role in certain types of solid tumours. In this study, we wanted to determine the expression level of INTS6 in hepatocellular carcino...

    Authors: Ka Yin Lui, Hui Zhao, Chunhui Qiu, Chuo Li, Zhigang Zhang, Haoran Peng, Rongdang Fu, Hu-an Chen and Min-qiang Lu

    Citation: BMC Cancer 2017 17:644

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  4. Content type: Research article

    Male breast cancer (MBC) represents a poorly characterised group of tumours, the management of which is largely based on practices established for female breast cancer. However, recent studies demonstrate biol...

    Authors: Siddhartha Deb, Kylie L. Gorringe, Jia-Min B. Pang, David J. Byrne, Elena A. Takano, kConFab Investigators, Alexander Dobrovic and Stephen B. Fox

    Citation: BMC Cancer 2017 17:641

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  5. Content type: Research article

    A fusion gene is a hybrid gene consisting of parts from two previously independent genes. Chromosomal rearrangements leading to gene breakage are frequent in high-grade serous ovarian carcinomas and have been ...

    Authors: Marianne Lislerud Smebye, Antonio Agostini, Bjarne Johannessen, Jim Thorsen, Ben Davidson, Claes Göran Tropé, Sverre Heim, Rolf Inge Skotheim and Francesca Micci

    Citation: BMC Cancer 2017 17:642

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  6. Content type: Research article

    Acute myeloid leukemia (AML) is an aggressive malignancy only cured by intensive therapy. However, many elderly and unfit patients cannot receive such treatment due to an unacceptable risk of treatment-related...

    Authors: Håkon Reikvam, Randi Hovland, Rakel Brendsdal Forthun, Sigrid Erdal, Bjørn Tore Gjertsen, Hanne Fredly and Øystein Bruserud

    Citation: BMC Cancer 2017 17:630

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  7. Content type: Research article

    Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spe...

    Authors: Benedito Mauro Rossi, Edenir Inêz Palmero, Francisco López-Kostner, Carlos Sarroca, Carlos Alberto Vaccaro, Florencia Spirandelli, Patricia Ashton-Prolla, Yenni Rodriguez, Henrique de Campos Reis Galvão, Rui Manuel Reis, André Escremim de Paula, Luis Gustavo Capochin Romagnolo, Karin Alvarez, Adriana Della Valle, Florencia Neffa, Pablo German Kalfayan…

    Citation: BMC Cancer 2017 17:623

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  8. Content type: Research article

    Prostate cancer is a major contributor to mortality worldwide, and significant efforts are being undertaken to decipher specific cellular and molecular pathways underlying the disease. Chronic stress is known ...

    Authors: Ivan E. Flores, Jorge A. Sierra-Fonseca, Olinamyr Davalos, Luis A. Saenz, Maria M. Castellanos, Jaidee K. Zavala and Kristin L. Gosselink

    Citation: BMC Cancer 2017 17:621

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  9. Content type: Research article

    Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC). The role of other breast ...

    Authors: Sanna Hallamies, Liisa M. Pelttari, Paula Poikonen-Saksela, Antti Jekunen, Arja Jukkola-Vuorinen, Päivi Auvinen, Carl Blomqvist, Kristiina Aittomäki, Johanna Mattson and Heli Nevanlinna

    Citation: BMC Cancer 2017 17:620

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  10. Content type: Research article

    Describe a single-center real-world experience with comprehensive genomic profiling (CGP) to identify genotype directed therapy (GDT) options for patients with malignancies refractory to standard treatment opt...

    Authors: Talal Hilal, Mary Nakazawa, Jacob Hodskins, John L. Villano, Aju Mathew, Guarav Goel, Lars Wagner, Susanne M. Arnold, Philip DeSimone, Lowell B. Anthony and Peter J. Hosein

    Citation: BMC Cancer 2017 17:602

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  11. Content type: Research article

    DNA methylation changes occurring in cancer cells are featured with both promoter CpG island hypermethylation and diffuse genomic hypomethylation. Long interspersed element-1 (LINE-1) is repeated in an intersp...

    Authors: Seorin Jeong, Kyoungbun Lee, Xianyu Wen, Younghoon Kim, Nam-Yun Cho, Ja-June Jang and Gyeong Hoon Kang

    Citation: BMC Cancer 2017 17:588

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  12. Content type: Research article

    Most gastrointestinal stromal tumors (GISTs) harbor mutually exclusive gain of function mutations in the receptor tyrosine kinase (RTK) KIT (70–80%) or in the related receptor PDGFRA (~10%). These GISTs genera...

    Authors: Martin G. Belinsky, Kathy Q. Cai, Yan Zhou, Biao Luo, Jianming Pei, Lori Rink and Margaret von Mehren

    Citation: BMC Cancer 2017 17:512

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  13. Content type: Research article

    BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in ...

    Authors: Kirsi M. Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi, Satu-Leena Laasanen and Johanna Schleutker

    Citation: BMC Cancer 2017 17:496

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  14. Content type: Study protocol

    The ‘common variant, common disease’ model predicts that a significant component of hereditary breast cancer unexplained by pathogenic variants in moderate or high-penetrance genes is due to the cumulative eff...

    Authors: Tatiane Yanes, Bettina Meiser, Mary-Anne Young, Rajneesh Kaur, Gillian Mitchell, Kristine Barlow-Stewart, Tony Roscioli, Jane Halliday and Paul James

    Citation: BMC Cancer 2017 17:491

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  15. Content type: Research article

    The disco-interacting protein 2 homolog C (DIP2C) gene is an uncharacterized gene found mutated in a subset of breast and lung cancers. To understand the role of DIP2C in tumour development we studied the gene in...

    Authors: Chatarina Larsson, Muhammad Akhtar Ali, Tatjana Pandzic, Anders M. Lindroth, Liqun He and Tobias Sjöblom

    Citation: BMC Cancer 2017 17:487

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  16. Content type: Research article

    Epigenetic changes, including DNA methylation, disrupt normal cell function, thus contributing to multiple steps of carcinogenesis. Nasopharyngeal carcinoma (NPC) is endemic in southern China and is highly ass...

    Authors: Weilin Zhao, Yingxi Mo, Shumin Wang, Kaoru Midorikawa, Ning Ma, Yusuke Hiraku, Shinji Oikawa, Guangwu Huang, Zhe Zhang, Mariko Murata and Kazuhiko Takeuchi

    Citation: BMC Cancer 2017 17:489

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  17. Content type: Research article

    DNA repair of alkylation damage is defective in various cancers. This occurs through somatically acquired inactivation of the MGMT gene in various cancer types, including breast cancers. In addition to MGMT, t...

    Authors: Olafur Andri Stefansson, Stefan Hermanowicz, Jasper van der Horst, Holmfridur Hilmarsdottir, Zuzanna Staszczak, Jon Gunnlaugur Jonasson, Laufey Tryggvadottir, Thorkell Gudjonsson and Stefan Sigurdsson

    Citation: BMC Cancer 2017 17:469

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  18. Content type: Research article

    Sequencing analysis of circulating tumor cells (CTCs) enables “liquid biopsy” to guide precision oncology strategies. However, this requires low-template whole genome amplification (WGA) that is prone to error...

    Authors: Shonan Sho, Colin M. Court, Paul Winograd, Sangjun Lee, Shuang Hou, Thomas G. Graeber, Hsian-Rong Tseng and James S. Tomlinson

    Citation: BMC Cancer 2017 17:457

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  19. Content type: Research article

    Epithelial to mesenchymal transition (EMT) is the process by which stationary epithelial cells transdifferentiate to mesenchymal cells with increased motility. EMT is integral in early stages of development an...

    Authors: Princy Parsana, Sarah R. Amend, James Hernandez, Kenneth J. Pienta and Alexis Battle

    Citation: BMC Cancer 2017 17:447

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  20. Content type: Research article

    Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. ...

    Authors: Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Lovise Mæhle, Dag Erik Undlien, Jan Norum and Ellen Schlichting

    Citation: BMC Cancer 2017 17:438

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