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Genetics, genomics and epigenetics

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.

Page 5 of 16

  1. 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

    Content type: Research article

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  2. 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

    Content type: Case report

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  3. 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

    Content type: Research article

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  4. 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

    Content type: Research article

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  5. 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

    Content type: Research article

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  6. 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

    Content type: Research article

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  7. 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

    Content type: Research article

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  8. 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

    Content type: Case report

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  9. 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

    Content type: Research article

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  10. 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

    Content type: Research article

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  11. 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

    Content type: Research article

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  12. 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

    Content type: Research article

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  13. 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

    Content type: Research article

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  14. 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

    Content type: Research article

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    The Data note to this article has been published in BMC Research Notes 2019 12:435

  15. 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

    Content type: Research article

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  16. 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

    Content type: Research article

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  17. 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

    Content type: Research article

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  18. 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

    Content type: Research article

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  19. 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

    Content type: Research article

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  20. 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

    Content type: Research article

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  21. 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

    Content type: Research article

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  22. 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

    Content type: Research article

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  23. 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

    Content type: Research article

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  24. 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

    Content type: Research article

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  25. 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

    Content type: Research article

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  26. 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

    Content type: Study protocol

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  27. 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

    Content type: Research article

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  28. 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

    Content type: Research article

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  29. 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

    Content type: Research article

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  30. 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

    Content type: Research article

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  31. 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

    Content type: Case report

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  32. 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

    Content type: Research article

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  33. 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

    Content type: Research article

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  34. 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

    Content type: Research article

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  35. 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

    Content type: Research article

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  36. 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

    Content type: Research article

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  37. 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

    Content type: Research article

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  38. 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

    Content type: Research article

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  39. Burkitt lymphoma (BL) is characterized by overexpression of the c-myc oncogene, which in the vast majority of cases is a consequence of an IGH/MYC translocation. While myc is the seminal event, BL is a complex am...

    Authors: Cliff I. Oduor, Yasin Kaymaz, Kiprotich Chelimo, Juliana A. Otieno, John Michael Ong’echa, Ann M. Moormann and Jeffrey A. Bailey

    Citation: BMC Cancer 2017 17:761

    Content type: Research article

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  40. Neuroendocrine prostate cancer (NEPC) may be rising in prevalence as patients with advanced prostate cancer potentially develop resistance to contemporary anti-androgen treatment through a neuroendocrine pheno...

    Authors: Harrison K. Tsai, Jonathan Lehrer, Mohammed Alshalalfa, Nicholas Erho, Elai Davicioni and Tamara L. Lotan

    Citation: BMC Cancer 2017 17:759

    Content type: Research article

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  41. 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

    Content type: Research article

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  42. To better predict the likelihood of response to chemotherapy, we have conducted a study comparing the gene expression patterns of primary tumours with their corresponding response to systemic chemotherapy in t...

    Authors: Cemile Dilara Savci-Heijink, Hans Halfwerk, Jan Koster and Marc Joan Van de Vijver

    Citation: BMC Cancer 2017 17:755

    Content type: Research article

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  43. Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial ...

    Authors: Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Hellen Kuasne, Ranyell Matheus Spencer, Wilson Toshihiko Nakagawa, Tiago Santoro Bezerra, Bruna Catin Kupper, Renata Maymi Takahashi, Mateus Barros Filho, Silvia Regina Rogatto and Ademar Lopes

    Citation: BMC Cancer 2017 17:754

    Content type: Research article

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  44. While cure rates for childhood acute lymphoblastic leukemia (cALL) now exceed 80%, over 60% of survivors will face treatment-related long-term sequelae, including cardiometabolic complications such as obesity,...

    Authors: Jade England, Simon Drouin, Patrick Beaulieu, Pascal St-Onge, Maja Krajinovic, Caroline Laverdière, Emile Levy, Valérie Marcil and Daniel Sinnett

    Citation: BMC Cancer 2017 17:751

    Content type: Research article

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  45. Melanoma is the most lethal type of skin cancer. Since chemoresistance is a significant barrier, identification of regulators affecting chemosensitivity is necessary in order to create new forms of interventio...

    Authors: Priscila Daniele Ramos Cirilo, Luciana Nogueira de Sousa Andrade, Bruna Renata Silva Corrêa, Mei Qiao, Tatiane Katsue Furuya, Roger Chammas and Luiz Otavio Ferraz Penalva

    Citation: BMC Cancer 2017 17:750

    Content type: Research article

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  46. Non-coding RNAs play an important role in human carcinogenesis. YRNAs (Ro-associated Y), a novel class of non-coding RNAs, have been identified as biomarker in various malignancies, but remain to be studied in...

    Authors: Yuri Tolkach, Anna Franziska Stahl, Eva-Maria Niehoff, Chenming Zhao, Glen Kristiansen, Stefan Cajetan Müller and Jörg Ellinger

    Citation: BMC Cancer 2017 17:749

    Content type: Research article

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  47. Understanding the underlying molecular mechanisms involved in the formation of cutaneous malignant melanoma is critical for improved diagnosis and treatment. Keratinocytic nuclear receptor Retinoid X Receptor ...

    Authors: Sharmeen Chagani, Rong Wang, Evan L. Carpenter, Christiane V. Löhr, Gitali Ganguli-Indra and Arup K. Indra

    Citation: BMC Cancer 2017 17:736

    Content type: Research article

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  48. Circulating cell-free miRNAs have emerged as promising minimally-invasive biomarkers for early detection, prognosis and monitoring of cancer. They can exist in the bloodstream incorporated into extracellular v...

    Authors: Edgars Endzeliņš, Andreas Berger, Vita Melne, Cristina Bajo-Santos, Kristīne Soboļevska, Artūrs Ābols, Marta Rodriguez, Daiga Šantare, Anastasija Rudņickiha, Vilnis Lietuvietis, Alicia Llorente and Aija Linē

    Citation: BMC Cancer 2017 17:730

    Content type: Research article

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