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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: Case report

    Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) with less than 40 cases of patients being reported or clinically suspected meeting with 2008 World Health Organization (“WHO”) di...

    Authors: Xue Bin Wu, Wei Wei Wu, Yue Zhou, Xuan Wang, Jia Li and Yang Yu

    Citation: BMC Cancer 2018 18:343

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  2. Content type: Research article

    Next-generation sequencing (NGS) is an efficient and sensitive method to detect mutations from ctDNA. Many features and clinical conditions could significantly affect the concordance between ctDNA and correspo...

    Authors: Nong Yang, Yi Li, Zhidong Liu, Hao Qin, Duanming Du, Xinkai Cao, Xiaoqing Cao, Jun Li, Dongge Li, Bo Jiang, Lincan Duan, Haiyan Yang, Zhenghua Zhang, Hao Lin, Jianying Li, Zhenhua Yang…

    Citation: BMC Cancer 2018 18:319

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  3. Content type: Research article

    C3H mice have been frequently used in cancer studies as animal models of spontaneous liver tumors and chemically induced hepatocellular carcinoma (HCC). Epigenetic modifications, including DNA methylation, are...

    Authors: Junya Matsushita, Kazuyuki Okamura, Kazuhiko Nakabayashi, Takehiro Suzuki, Yu Horibe, Tomoko Kawai, Toshihiro Sakurai, Satoshi Yamashita, Yoshikazu Higami, Gaku Ichihara, Kenichiro Hata and Keiko Nohara

    Citation: BMC Cancer 2018 18:317

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  4. Content type: Research article

    It is unclear whether germline breast cancer susceptibility gene mutations affect breast cancer related outcomes. We wanted to evaluate mutation patterns in 20 breast cancer susceptibility genes and correlate ...

    Authors: Yong Alison Wang, Jhih-Wei Jian, Chen-Fang Hung, Hung-Pin Peng, Chi-Fan Yang, Hung-Chun Skye Cheng and An-Suei Yang

    Citation: BMC Cancer 2018 18:315

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  5. Content type: Research article

    Genetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic sus...

    Authors: Hanaa Hardi, Rahma Melki, Zouhour Boughaleb, Tijani El Harroudi, Souria Aissaoui and Noureddine Boukhatem

    Citation: BMC Cancer 2018 18:292

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  6. Content type: Research article

    Renal cell carcinoma (RCC) account for over 80% of renal malignancies. The most common type of RCC can be classified into three subtypes including clear cell, papillary and chromophobe. ccRCC (the Clear Cell R...

    Authors: Peng Wu, Jia-Li Liu, Shi-Mei Pei, Chang-Peng Wu, Kai Yang, Shu-Peng Wang and Song Wu

    Citation: BMC Cancer 2018 18:287

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  7. Content type: Case report

    The role of the hypoxia signaling pathway in the pathogenesis of pheochromocytoma/paraganglioma (PPGL)-polycythemia syndrome has been elucidated. Novel somatic mutations in hypoxia-inducible factor type 2A (HIF2A

    Authors: Ying Pang, Garima Gupta, Chunzhang Yang, Herui Wang, Thanh-Truc Huynh, Ziedulla Abdullaev, Svetlana D. Pack, Melanie J. Percy, Terence R. J. Lappin, Zhengping Zhuang and Karel Pacak

    Citation: BMC Cancer 2018 18:286

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  8. Content type: Research article

    Ribosomes, the organelles responsible for the translation of mRNA, are comprised of four rRNAs and ~ 80 ribosomal proteins (RPs). Although canonically assumed to be maintained in equivalent proportions, some R...

    Authors: James M. Dolezal, Arie P. Dash and Edward V. Prochownik

    Citation: BMC Cancer 2018 18:275

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  9. Content type: Research article

    MYC overexpression is associated with poor prognosis in breast tumors (BCa). The objective of this study was to determine the prevalence of MYC amplification and associated markers in BCa tumors from African A...

    Authors: Tammey J. Naab, Anita Gautam, Luisel Ricks-Santi, Ashwini K. Esnakula, Yasmine M. Kanaan, Robert L. DeWitty, Girmay Asgedom, Khepher H. Makambi, Massih Abawi and Jan K. Blancato

    Citation: BMC Cancer 2018 18:274

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  10. Content type: Research article

    As hybrid RNAs, transcription-induced chimeras (TICs) may have tumor-promoting properties, and some specific chimeras have become important diagnostic markers and therapeutic targets for cancer.

    Authors: Ye Tao, Neil Gross, Xiaojiao Fan, Jianming Yang, Maikun Teng, Xu Li, Guojun Li, Yang Zhang and Zhigang Huang

    Citation: BMC Cancer 2018 18:248

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  11. Content type: Research article

    Since the first evidence suggesting existence of stem-like cancer cells, the process of cells reprogramming to the stem cell state remains as an attractive tool for cancer stemness research. Current knowledge ...

    Authors: Egle Strainiene, Mindaugas Binkis, Silvija Urnikyte, Vaidotas Stankevicius, Ausra Sasnauskiene, Gabrielis Kundrotas, Andrius Kazlauskas and Kestutis Suziedelis

    Citation: BMC Cancer 2018 18:222

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  12. Content type: Research article

    Acute myeloid leukemia (AML) is a heterogeneous group of hematopoietic malignancies due to sophisticated genetic mutations and epigenetic dysregulation. MicroRNAs (miRNAs), a class of small non-coding RNAs, ar...

    Authors: Laixi Bi, Bin Zhou, Haiying Li, Licai He, Chunjing Wang, Zhonggai Wang, Liqing Zhu, Mengqian Chen and Shenmeng Gao

    Citation: BMC Cancer 2018 18:182

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  13. Content type: Research article

    While a range of common genetic variants have been identified to be associated with risk of sporadic breast cancer in several Western studies, little is known about their role in South Asian populations. Our o...

    Authors: Nirmala Dushyanthi Sirisena, Adebowale Adeyemo, Anchala I. Kuruppu, Nilaksha Neththikumara, Nilakshi Samaranayake and Vajira H. W. Dissanayake

    Citation: BMC Cancer 2018 18:180

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  14. Content type: Research article

    Tumor heterogeneity in breast cancer tumors is today widely recognized. Most of the available knowledge in genetic variation however, relates to the primary tumor while metastatic lesions are much less studied...

    Authors: Una Kjällquist, Rikard Erlandsson, Nicholas P. Tobin, Amjad Alkodsi, Ikram Ullah, Gustav Stålhammar, Eva Karlsson, Thomas Hatschek, Johan Hartman, Sten Linnarsson and Jonas Bergh

    Citation: BMC Cancer 2018 18:174

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  15. Content type: Research article

    Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers ...

    Authors: Tú Nguyen-Dumont, Zhi L. Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Andrew Lonie, Miroslav K. Kapuscinski, Khalid Mahmood, David E. Goldgar, Graham G. Giles, Ingrid Winship, John L. Hopper and Melissa C. Southey

    Citation: BMC Cancer 2018 18:165

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  16. Content type: Research article

    Increasing evidence shows that dysregulated long non-coding RNAs (lncRNAs) can serve as potential biomarkers for cancer prognosis. However, lncRNA signatures, as potential prognostic biomarkers for esophageal ...

    Authors: Guo-Wei Huang, Yu-Jie Xue, Zhi-Yong Wu, Xiu-E Xu, Jian-Yi Wu, Hui-Hui Cao, Ying Zhu, Jian-Zhong He, Chun-Quan Li, En-Min Li and Li-Yan Xu

    Citation: BMC Cancer 2018 18:147

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  17. Content type: Research article

    Pancreas ductal adenocarcinoma (PDAC) has the most dismal prognosis among all human cancers since it is highly resistant to chemotherapy, radiotherapy and immunotherapy. The anticipated consequence of all ther...

    Authors: Chunwan Lu, Dafeng Yang, Maria E. Sabbatini, Aaron H. Colby, Mark W. Grinstaff, Nicholas H. Oberlies, Cedric Pearce and Kebin Liu

    Citation: BMC Cancer 2018 18:149

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  18. Content type: Research article

    The heterogeneous behavior of patients with melanoma makes prognostication challenging. To address this, a gene expression profile (GEP) test to predict metastatic risk was previously developed. This study eva...

    Authors: Jonathan S. Zager, Brian R. Gastman, Sancy Leachman, Rene C. Gonzalez, Martin D. Fleming, Laura K. Ferris, Jonhan Ho, Alexander R. Miller, Robert W. Cook, Kyle R. Covington, Kristen Meldi-Plasseraud, Brooke Middlebrook, Lewis H. Kaminester, Anthony Greisinger, Sarah I. Estrada, David M. Pariser…

    Citation: BMC Cancer 2018 18:130

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  19. Content type: Research article

    MicroRNAs (miRNAs or miRs) are small molecules known to be involved in post-transcriptional gene expression. Many of them have been shown to influence risk for various diseases. Recent studies suggest that low...

    Authors: Aleksandra Butrym, Piotr Łacina, Kazimierz Kuliczkowski, Katarzyna Bogunia-Kubik and Grzegorz Mazur

    Citation: BMC Cancer 2018 18:107

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