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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

    A unified analysis of DNA sequences from hundreds of tumors concluded that the driver mutations primarily occur in the earliest stages of cancer formation, with relatively few driver mutation events detected i...

    Authors: Karen Gomez, Sayaka Miura, Louise A. Huuki, Brianna S. Spell, Jeffrey P. Townsend and Sudhir Kumar

    Citation: BMC Cancer 2018 18:85

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  2. Content type: Research article

    Sessile serrated adenomas with BRAF mutation progress rapidly to cancer following the development of dysplasia (SSAD). Approximately 75% of SSADs methylate the mismatch repair gene MLH1, develop mismatch repair d...

    Authors: Lochlan J. Fennell, Saara Jamieson, Diane McKeone, Tracie Corish, Megan Rohdmann, Tori Furner, Mark Bettington, Cheng Liu, Futoshi Kawamata, Catherine Bond, Jolieke Van De Pols, Barbara Leggett and Vicki Whitehall

    Citation: BMC Cancer 2018 18:35

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  3. Content type: Research article

    Aberrant overexpression of PIWI/piRNA pathway proteins is shown for many types of tumors. Interestingly, these proteins are downregulated in testicular germ cell tumors (TGCTs) compared to normal testis tissue...

    Authors: Ildar V. Gainetdinov, Yulia V. Skvortsova, Sofia A. Kondratieva, Alexey Klimov, Alexey A. Tryakin and Tatyana L. Azhikina

    Citation: BMC Cancer 2018 18:20

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  4. Content type: Research article

    Prostate Cancer (PCa) is the second most prevalent cancer among U.S. males. In recent decades many men with low risk PCa have been over diagnosed and over treated. Given significant co-morbidities associated w...

    Authors: Katerina Pestova, Adam J. Koch, Charles P. Quesenberry, Jun Shan, Ying Zhang, Amethyst D. Leimpeter, Beth Blondin, Svetlana Sitailo, Lela Buckingham, Jing Du, Huixin Fei and Stephen K. Van Den Eeden

    Citation: BMC Cancer 2018 18:2

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  5. Content type: Research article

    Associations between polymorphisms of UDP-glucuronosyltransferases (UGTs) or efflux transporters (e.g., P-glycoprotein and MRP2) and different types of cancer have been described, whereas the role of influx tr...

    Authors: Sabrina Falkowski, Jean-Baptiste Woillard, Deborah Postil, Nicole Tubiana-Mathieu, Eric Terrebonne, Antoine Pariente, Denis Smith, Rosine Guimbaud, Claire Thalamas, Koukeb Rouguieg-Malki, Pierre Marquet and Nicolas Picard

    Citation: BMC Cancer 2017 17:901

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  6. Content type: Study protocol

    A wide range of studies has investigated the diagnostic proficiency of extracellular microRNAs (miRNAs) in hepatocellular cancer (HCC). HCC is expected to increase in Sub-Saharan Africa (SSA), due to endemic l...

    Authors: K. Sartorius, B. Sartorius, A. Kramvis, E. Singh, A. Turchinovich, B. Burwinkel, T. Madiba and C. A. Winkler

    Citation: BMC Cancer 2017 17:894

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  7. Content type: Research article

    EphA2 is a crucial oncogene in gastric cancer (GC) development and metastasis, this study aims to identify microRNAs that target it and serve as key regulators of gastric carcinogenesis.

    Authors: Jin Huang, Yijing He, Howard L. Mcleod, Yanchun Xie, Desheng Xiao, Huabin Hu, Pan Chen, Liangfang Shen, Shan Zeng, Xianli Yin, Jie Ge, Li Li, Lanhua Tang, Jian Ma and Zihua Chen

    Citation: BMC Cancer 2017 17:886

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  8. Content type: Research article

    Histones undergo extensive post-translational modifications and this epigenetic regulation plays an important role in modulating transcriptional programs capable of driving cancer progression. Acetylation of h...

    Authors: Shivashankar Damodaran, Nathan Damaschke, Joseph Gawdzik, Bing Yang, Cedric Shi, Glenn O. Allen, Wei Huang, John Denu and David Jarrard

    Citation: BMC Cancer 2017 17:874

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  9. Content type: Research article

    Hepatocellular carcinoma (HCC) is the leading cause of cancer mortality. Chemical and virus induction are two major risk factors, however, the potential molecular mechanisms of their differences remain elusive...

    Authors: Qin Tang, Qi Wang, Qiong Zhang, Sheng-Yan Lin, Yanhong Zhu, Xiangliang Yang and An-Yuan Guo

    Citation: BMC Cancer 2017 17:862

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  10. Content type: Research article

    The significance of PLK1 (polo-like kinase 1) has become increasingly essential as both a biomarker and a target for cancer treatment. Here, we aimed to determine the downstream genes of PLK1 and their effects...

    Authors: Zhe Zhang, Guojun Zhang, Zhipeng Gao, Shiguang Li, Zeliang Li, Jianbin Bi, Xiankui Liu, Zhenhua Li and Chuize Kong

    Citation: BMC Cancer 2017 17:861

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  11. Content type: Case report

    Colorectal carcinoma (CRC) is one of the most common causes of cancer-related deaths. The mean age of patients with CRC ranges from 49 to 60 years. Pediatric CRC is unusual, which often escapes early diagnosis...

    Authors: Yung-Sung Yeh, Yu-Tang Chang, Cheng-Jen Ma, Ching-Wen Huang, Hsiang-Lin Tsai, Yi-Ting Chen and Jaw-Yuan Wang

    Citation: BMC Cancer 2017 17:849

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  12. Content type: Research article

    A systematic review was conducted to assess the diagnostic test accuracy of polymerase chain reaction (PCR)-based microsatellite instability (MSI) testing for identifying Lynch syndrome in patients with colore...

    Authors: Helen Coelho, Tracey Jones-Hughes, Tristan Snowsill, Simon Briscoe, Nicola Huxley, Ian M. Frayling and Chris Hyde

    Citation: BMC Cancer 2017 17:836

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  13. Content type: Research article

    MicroRNAs (miRNAs) exhibit essential regulatory functions related to cell growth, apoptosis, development and differentiation. Dysregulated expression of miRNAs is associated with a wide variety of human diseas...

    Authors: Guanyu Wang, Fulu Dong, Zhiyao Xu, Sherven Sharma, Xiaotong Hu, Dafang Chen, Lumin Zhang, Jinping Zhang and Qinghua Dong

    Citation: BMC Cancer 2017 17:805

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  14. Content type: Research article

    Female breast cancer is frequently diagnosed at a later stage and the leading cause of cancer deaths world-wide. Levels of cell-free circulating microRNAs (miRNAs) can potentially be used as biomarkers to meas...

    Authors: Amal Qattan, Haya Intabli, Wafa Alkhayal, Chafica Eltabache, Taher Tweigieri and Suad Bin Amer

    Citation: BMC Cancer 2017 17:799

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  15. Content type: Research article

    Colorectal cancer is a heterogeneous group of malignancies with complex molecular subtypes. While colon cancer has been widely investigated, studies on rectal cancer are very limited. Here, we performed multi-...

    Authors: Mingshan Liu, Yang Liu, Jiabo Di, Zhe Su, Hong Yang, Beihai Jiang, Zaozao Wang, Meng Zhuang, Fan Bai and Xiangqian Su

    Citation: BMC Cancer 2017 17:787

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  16. Content type: Research article

    Gastric cancer (GC) is one of the most frequently diagnosed digestive tract cancers and carries a high risk of mortality. Acetaldehyde (AA), a carcinogenic intermediate of ethanol metabolism contributes to the...

    Authors: Sudakshina Ghosh, Biswabandhu Bankura, Soumee Ghosh, Makhan Lal Saha, Arup Kumar Pattanayak, Souvik Ghatak, Manalee Guha, Senthil Kumar Nachimuthu, Chinmoy Kumar Panda, Suvendu Maji, Subrata Chakraborty, Biswanath Maity and Madhusudan Das

    Citation: BMC Cancer 2017 17:782

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  17. Content type: Research article

    ESR1 mutations have attracted attention as a potentially important marker and treatment target in endocrine therapy-resistant breast cancer patients. The E380Q mutation, which is one o...

    Authors: Takashi Takeshita, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Aiko Sueta, Mai Tomiguchi, Keiichi Murakami, Yoko Omoto and Hirotaka Iwase

    Citation: BMC Cancer 2017 17:786

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  18. Content type: Research article

    Expression of caveolin-1 (Cav-1) is frequently altered in many human cancers and both tumor suppression and promotion functions of Cav-1 have been suggested based on its expression status. However, it remains ...

    Authors: Byung-Kyu Ryu, Min-Goo Lee, Nam-Hoon Kim, Kil Yeon Lee, Shin-Ju Oh, Jung-Rock Moon, Hyo Jong Kim and Sung-Gil Chi

    Citation: BMC Cancer 2017 17:766

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  19. Content type: Research article

    The association of genes XRCC1, TP53 and MDM2 with breast cancer (BC) has never been tested in Kyrgyz population. We, therefore, aimed to identify an association of alleles and genotypes of polymorphic markers Ar...

    Authors: Jainagul Isakova, Elnura Talaibekova, Nazira Aldasheva, Denis Vinnikov and Almaz Aldashev

    Citation: BMC Cancer 2017 17:758

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