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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.

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  1. Content type: Research article

    The relationship between polymorphisms in vascular endothelial growth factor (VEGF) and gastric cancer is still inconclusive. We investigated whether there is an association between VEGF genetic polymorphisms ...

    Authors: Yeon-Ji Kim, Woo Chul/ Chung, Kyong-Hwa Jun and Hyung-Min Chin

    Citation: BMC Cancer 2019 19:483

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  2. Content type: Research article

    Recent studies have extensively investigated the role of miRNAs in colorectal cancer (CRC), and several associations have been reported. In addition, single nucleotide polymorphisms (SNPs) in promoter regions ...

    Authors: Eun-Gyo Kim, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Jisu Oh, Hak Hoon Jun, Jong Woo Kim and Nam Keun Kim

    Citation: BMC Cancer 2019 19:480

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  3. Content type: Research article

    Gene variants are dependable and sensitive biomarkers for target-specific therapies in breast cancer (BC). However, detection of mutations within tissues has many limitations. Plasma circulating free DNA (cfDN...

    Authors: Xin Yang, Kuo Zhang, Caiji Zhang, Rongxue Peng and Chengming Sun

    Citation: BMC Cancer 2019 19:465

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  4. Content type: Research article

    Helicobacter pylori infection is recognized as the main risk factor for gastric cancer (GC), the fifth most common neoplasia worldwide. H. pylori interacts with the immune system, disrupting the cytokine network ...

    Authors: Cecilia Martínez-Campos, Kirvis Torres-Poveda, Margarita Camorlinga-Ponce, Lourdes Flores-Luna, Carmen Maldonado-Bernal, Vicente Madrid-Marina and Javier Torres

    Citation: BMC Cancer 2019 19:453

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  5. Content type: Research article

    Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal malignancies and is not a clinically homogeneous disease, but subsets of patients with distinct prognosis and response to therapy can be identi...

    Authors: Maria Cristina Curia, Fabiana Fantini, Rossano Lattanzio, Francesca Tavano, Francesco Di Mola, Mauro Piantelli, Pasquale Battista, Pierluigi Di Sebastiano and Alessandro Cama

    Citation: BMC Cancer 2019 19:452

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  6. Content type: Research article

    TIMP-2 gene plays an important role in the development of breast cancer. The present study was conducted to evaluate whether TIMP-2 gene polymorphisms are associated with breast cancer risk in a Han Chinese cohor...

    Authors: Kai Wang, Guanying Wang, Shangke Huang, Anqi Luo, Xin Jing, Gang Li, Yi Zhou and Xinhan Zhao

    Citation: BMC Cancer 2019 19:446

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  7. Content type: Research article

    The progress of treatments of childhood acute lymphoblastic leukemia (ALL) has made it possible to reach a survival rate superior to 80%. However, the treatments lead to several long-term adverse effects, incl...

    Authors: Maxime Caru, Kateryna Petrykey, Simon Drouin, Patrick Beaulieu, Pascal St-Onge, Valérie Lemay, Laurence Bertout, Caroline Laverdiere, Gregor Andelfinger, Maja Krajinovic, Daniel Sinnett and Daniel Curnier

    Citation: BMC Cancer 2019 19:443

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  8. Content type: Research article

    Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD). Though there is no clinical evidence for an increased tumor risk in individual...

    Authors: Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X. Knaup, Arif B. Ekici, Steffen Uebe, André Reis, Michael Wiesener and Christiane Zweier

    Citation: BMC Cancer 2019 19:435

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  9. Content type: Research article

    Wilms’ tumor is also called nephroblastoma and is the most common pediatric renal cancer. Several genetic and epigenetic factors have been found to account for the development of Wilms’ tumor. MiRNAs play impo...

    Authors: Zhuo Liu, Feng He, Shengrong OuYang, Yuanyuan Li, Feifei Ma, Huibo Chang, Dingding Cao and Jianxin Wu

    Citation: BMC Cancer 2019 19:405

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  10. Content type: Technical advance

    With the introduction of Olaparib treatment for BRCA-deficient recurrent ovarian cancer, testing for somatic and/or germline mutations in BRCA1/2 genes in tumor tissues became essential for treatment decisions. I...

    Authors: Falk Zakrzewski, Laura Gieldon, Andreas Rump, Michael Seifert, Konrad Grützmann, Alexander Krüger, Sina Loos, Silke Zeugner, Karl Hackmann, Joseph Porrmann, Johannes Wagner, Karin Kast, Pauline Wimberger, Gustavo Baretton, Evelin Schröck, Daniela Aust…

    Citation: BMC Cancer 2019 19:396

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  11. Content type: Research article

    The impact of Tet oncogene family member 2 (TET2) mutations on the prognosis of acute myeloid leukemia (AML) is still controversial. A meta analysis is needed in order to assess the prognostic significance of TET...

    Authors: Ruiqi Wang, Xiaoning Gao and Li Yu

    Citation: BMC Cancer 2019 19:389

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  12. Content type: Research article

    Gene expression profiling provides key information for prognosis of breast cancer to establish treatment strategy. However, the genetic assessment should be available before induction of treatment to be useful...

    Authors: Jeeyeon Lee, Eun Hye Lee, Ho Yong Park, Wan Wook Kim, Ryu Kyung Lee, Yee Soo Chae, Soo Jung Lee, Jee-Eun Kim, Byeong-il Kang, Jee Young Park, Ji-Young Park and Jin Hyang Jung

    Citation: BMC Cancer 2019 19:388

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  13. Content type: Research article

    Intratumoral epidermal growth factor receptor (EGFR) mutational heterogeneity is yet controversial in non-small cell lung cancer (NSCLC) patients. Single-cell analysis provides the genetic profile of single cance...

    Authors: Longhua Guo, Zhihong Chen, Chongrui Xu, Xuchao Zhang, Honghong Yan, Jian Su, Jinji Yang, Zhi Xie, Weibang Guo, Feng Li, Yilong Wu and Qing Zhou

    Citation: BMC Cancer 2019 19:369

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  14. Content type: Research article

    Osteosarcoma is the most common malignant bone tumor in children. Survival remains poor among histologically poor responders, and there is a need to identify them at diagnosis to avoid delivering ineffective t...

    Authors: Krithika Bhuvaneshwar, Michael Harris, Yuriy Gusev, Subha Madhavan, Ramaswamy Iyer, Thierry Vilboux, John Deeken, Elizabeth Yang and Sadhna Shankar

    Citation: BMC Cancer 2019 19:357

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  15. Content type: Research article

    High risk human papillomaviruses (HPV) plays important roles in the development of cervical cancer, a number of other anogenital cancer and they are increasingly found in oropharyngeal squamous cell carcinoma ...

    Authors: Ge Gao, Jintu Wang, Jan L. Kasperbauer, Nicole M. Tombers, Fei Teng, Honglan Gou, Yonggang Zhao, Zhenhong Bao and David I. Smith

    Citation: BMC Cancer 2019 19:352

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  16. Content type: Research article

    Visceral organ metastasis is associated with poor survival outcomes in terms of metastasis free- and overall survival in breast carcinomas. Identification of a gene expression profile in tumours that selects a...

    Authors: C. D. Savci-Heijink, H. Halfwerk, J. Koster, H. M. Horlings and M. J. van de Vijver

    Citation: BMC Cancer 2019 19:333

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  17. Content type: Research article

    Non-muscular invasive bladder cancer (NMIBC) has a high risk of recurrence. As androgen receptor (AR) reportedly affects bladder cancer, we assessed the correlation between NMIBC recurrence and tumor AR expressio...

    Authors: Masato Yasui, Takashi Kawahara, Koji Izumi, Masahiro Yao, Yukari Ishiguro, Hitoshi Ishiguro, Hiroji Uemura and Yasuhide Miyoshi

    Citation: BMC Cancer 2019 19:331

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  18. Content type: Research article

    In the majority of familial breast cancer (BC) families, the etiology of the disease remains unresolved. To identify missing BC heritability resulting from relatively rare variants (minor allele frequency ≤ 1%...

    Authors: Rajendra Bahadur Shahi, Sylvia De Brakeleer, Ben Caljon, Ingrid Pauwels, Maryse Bonduelle, Sofie Joris, Christel Fontaine, Marian Vanhoeij, Sonia Van Dooren, Erik Teugels and Jacques De Grève

    Citation: BMC Cancer 2019 19:313

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  19. Content type: Research article

    Feline injection-site sarcoma (FISS), an aggressive iatrogenic subcutaneous malignancy, is challenging to manage clinically and little is known about the molecular basis of its pathogenesis. Tumor transcriptom...

    Authors: Qi Wei, Stephen A. Ramsey, Maureen K. Larson, Noah E. Berlow, Donasian Ochola, Christopher Shiprack, Amita Kashyap, Bernard Séguin, Charles Keller and Christiane V. Löhr

    Citation: BMC Cancer 2019 19:311

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  20. Content type: Research article

    High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with a recurrent disease are dependent on BRCA1/2 mutation status since only patients with known BRCA mutation are eligible...

    Authors: Andreja Gornjec, Srdjan Novakovic, Vida Stegel, Marko Hocevar, Ziva Pohar Marinsek, Barbara Gazic, Mateja Krajc and Erik Skof

    Citation: BMC Cancer 2019 19:296

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  21. Content type: Research article

    Lung adenocarcinoma is the most common type of lung cancers. Whole-genome sequencing studies disclosed the genomic landscape of lung adenocarcinomas. however, it remains unclear if the genetic alternations cou...

    Authors: Jiaxian Yu, Yueming Hu, Yafei Xu, Jue Wang, Jiajie Kuang, Wei Zhang, Jianlin Shao, Dianjing Guo and Yejun Wang

    Citation: BMC Cancer 2019 19:263

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  22. Content type: Research article

    To systematically assess the prevalence of BRCA1 and BRCA2 gene mutations in women with Hereditary Breast and/or Ovarian Cancer (HBOC) in Arab countries and to describe the variability in the BRCA gene mutatio...

    Authors: Khadiga Abdulrashid, Nour AlHussaini, Wifag Ahmed and Lukman Thalib

    Citation: BMC Cancer 2019 19:256

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  23. Content type: Research article

    Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the United States. High-throughput genotyping has enabled discovery of germline ...

    Authors: Tarun Karthik Kumar Mamidi, Jiande Wu and Chindo Hicks

    Citation: BMC Cancer 2019 19:229

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  24. Content type: Research article

    Gastric cancer (GC) is one of the most commonly occuring gastrointestinal tumor types, and early diagnosis and operation have a notable effect on the prognosis of patients. Although certain markers, including ...

    Authors: Jiaxin Liu, Zhao Liu, Xiaozhi Zhang, Tuotuo Gong and Demao Yao

    Citation: BMC Cancer 2019 19:227

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    The Correction to this article has been published in BMC Cancer 2019 19:759

  25. Content type: Research article

    Non-small cell lung cancer (NSCLC) as the most frequent type of lung cancer is associated with extensive mortality. Researchers have studied the suitability of several molecules as biomarkers for early detecti...

    Authors: Farbod Esfandi, Mohammad Taheri, Mir Davood Omrani, Mohammad Behgam Shadmehr, Shahram Arsang-Jang, Roshanak Shams and Soudeh Ghafouri-Fard

    Citation: BMC Cancer 2019 19:222

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  26. Content type: Research article

    Breast cancer is a highly heterogeneous disease resulting in diverse clinical behaviours and therapeutic responses. DNA methylation is a major epigenetic alteration that is commonly perturbed in cancers. The a...

    Authors: Bernardo P. de Almeida, Joana Dias Apolónio, Alexandra Binnie and Pedro Castelo-Branco

    Citation: BMC Cancer 2019 19:219

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  27. Content type: Research article

    Although surgical resection provides a cure for patients with intrahepatic cholangiocarcinoma (ICC), the risk of mortality and recurrence remains high. Several biomarkers are reported to be associated with the...

    Authors: Chao Bi, Mei Liu, Weiqi Rong, Fan Wu, Yang Zhang, Shengtao Lin, Yunhe Liu, Jianxiong Wu and Liming Wang

    Citation: BMC Cancer 2019 19:213

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  28. Content type: Research article

    Cancer immunotherapy with immune checkpoint blockade (CKB) is now standard of care for multiple cancers. The clinical response to CKB is associated with T cell immunity targeting cancer-induced mutations that ...

    Authors: Pooja Narang, Meixuan Chen, Amit A. Sharma, Karen S. Anderson and Melissa A. Wilson

    Citation: BMC Cancer 2019 19:200

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  29. Content type: Research article

    IDH1/2 mutated glioma has been associated with a germline risk variant, the rs55705857 G allele. The Utah Population Database (UPDB), a computerized genealogy of people in Utah, is a unique resource to evaluate c...

    Authors: Sarah Hummel, Wendy Kohlmann, Thomas M. Kollmeyer, Robert Jenkins, Joshua Sonnen, Cheryl A. Palmer, Howard Colman, Diana Abbott, Lisa Cannon-Albright and Adam L. Cohen

    Citation: BMC Cancer 2019 19:190

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  30. Content type: Case report

    Primary paediatric epidural sarcomas are extremely rare. Overall, there remains a paucity of knowledge in paediatric epidural sarcomas owing to the infrequent number of cases. The Archer FusionPlex Sarcoma Kit...

    Authors: Sharon Y. Y. Low, Chik Hong Kuick, Wan Yi Seow, Nurfahanah Bte Syed Sulaiman, Huiyi Chen, Derrick W. Q. Lian, Kenneth T. E. Chang, Enrica E. K. Tan, Shui Yen Soh, Grace I. L. Tan, Lee Ping Ng, Wan Tew Seow and David C. Y. Low

    Citation: BMC Cancer 2019 19:182

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  31. Content type: Research article

    Colorectal cancer (CRC) is one of the most common cancers worldwide, and genetic variations exert distinct roles in its pathogenesis. Single nucleotide polymorphisms (SNPs) in interleukin 1 alpha (IL1A) were repo...

    Authors: Hong Ji, Le Lu, Jingjing Huang, Yang Liu, Binchao Zhang, Hui Tang, Dangze Sun, Yafei Zhang, Hao Shang, Yiming Li and Hongwei Lu

    Citation: BMC Cancer 2019 19:181

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  32. Content type: Research article

    In lung cancer, epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor sensitizing mutations co-existing with rare minor EGFR mutations are known as compound mutations. These minor EGFR mutations can l...

    Authors: Kei Namba, Shuta Tomida, Takehiro Matsubara, Yuta Takahashi, Eisuke Kurihara, Yusuke Ogoshi, Takahiro Yoshioka, Tatsuaki Takeda, Hidejiro Torigoe, Hiroki Sato, Kazuhiko Shien, Hiromasa Yamamoto, Junichi Soh, Kazunori Tsukuda and Shinichi Toyooka

    Citation: BMC Cancer 2019 19:175

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  33. Content type: Case report

    Langerhans cell histiocytosis (LCH) is a rare clonal disease, characterized by hyperproliferation of Langerhans cells. It may rarely involve the thyroid gland. Its association with papillary thyroid carcinoma ...

    Authors: Mohammad A. Al Hamad, Hassan M. Albisher, Weam R. Al Saeed, Ahmed T. Almumtin, Fatimah M. Allabbad and Mohammed A. Shawarby

    Citation: BMC Cancer 2019 19:170

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  34. Content type: Research article

    Liver metastases of breast cancer are frequent and can recur even after “complete/R0” resection in combination with systemic and hormonal treatments. The aim of this study was to analyze throughout repeat hepa...

    Authors: Aldrick Ruiz, Mylène Sebagh, Raphaël Saffroy, Marc-Antoine Allard, Nelly Bosselut, Giulia Hardoin, Julie Vasseur, Jocelyne Hamelin, René Adam, Jean-François Morère and Antoinette Lemoine

    Citation: BMC Cancer 2019 19:169

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  35. Content type: Research article

    MicroRNAs (miRNA) and other small RNAs are frequently dysregulated in cancer and are promising biomarkers for colon cancer. Here we profile human, virus and bacteria small RNAs in normal and tumor tissue from ...

    Authors: Robin Mjelle, Wenche Sjursen, Liv Thommesen, Pål Sætrom and Eva Hofsli

    Citation: BMC Cancer 2019 19:161

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  36. Content type: Research article

    Chemotherapy-induced alopecia has been well documented as a cause of distress to patients undergoing cancer treatment. Almost all traditional chemotherapeutic agents cause severe alopecia. Despite advances in ...

    Authors: Young-Cheol Lim, Hyeongi Kim, Sang Moo Lim and Jin Su Kim

    Citation: BMC Cancer 2019 19:149

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  37. Content type: Research article

    Differentiating between cancer patients who will experience metastasis within a short time and who will be long-term survivors without metastasis is a critical aim in healthcare. The microsatellite instability...

    Authors: Michelle E. Penney, Patrick S. Parfrey, Sevtap Savas and Yildiz E. Yilmaz

    Citation: BMC Cancer 2019 19:133

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    The Correction to this article has been published in BMC Cancer 2019 19:437

  38. Content type: Research article

    Serum exosomal microRNAs (miRNAs) have been suggested as novel biomarkers for various diseases, especially gastric cancer (GC). But circulating biomarkers for Chronic atrophic gastritis (CAG) which is defined ...

    Authors: Hong Liu, Pei-wu Li, Wei-qin Yang, Hong Mi, Jing-lin Pan, Yuan-cheng Huang, Zheng-kun Hou, Qiu-ke Hou, Qi Luo and Feng-bin Liu

    Citation: BMC Cancer 2019 19:129

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  39. Content type: Research article

    The CD133 transmembrane protein is a well-recognized stem cell marker that has been used to isolate putative cancer stem cell populations from gastric cancers (GCs). However, the molecular features or biomarke...

    Authors: Tae-Min Kim, Yoon Ho Ko, Shin Jung Ha and Han Hong Lee

    Citation: BMC Cancer 2019 19:119

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  40. Content type: Research article

    Heterozygous germline TP53 gene mutations result in Li-Fraumeni Syndrome (LFS). Breast cancer (BC) is the most frequent tumor in young women with LFS. An important issue related to BC in the Mexican population is...

    Authors: Lenny N. Gallardo-Alvarado, María Teresa Tusié-Luna, María Isabel Tussié-Luna, José Díaz-Chávez, Yayoi X. Segura, Enrique Bargallo-Rocha, Cynthia Villarreal, Luis A. Herrera-Montalvo, Enrique M. Herrera-Medina and David F. Cantu-de Leon

    Citation: BMC Cancer 2019 19:118

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  41. Content type: Research article

    Significant numbers of variants detected in cancer patients are often left labeled only as variants of unknown significance (VUS). In order to expand precision medicine to a wider population, we need to extend...

    Authors: Takahiko Koyama, Kahn Rhrissorrakrai and Laxmi Parida

    Citation: BMC Cancer 2019 19:114

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  42. Content type: Research article

    Genetic polymorphisms in genes involved in pain modulation have been reported to be associated to opioid efficacy and safety in different clinical settings.

    Authors: Ersilia Lucenteforte, Alfredo Vannacci, Giada Crescioli, Niccolò Lombardi, Laura Vagnoli, Laura Giunti, Valentina Cetica, Maria Luisa Coniglio, Alessandra Pugi, Roberto Bonaiuti, Maurizio Aricò, Sabrina Giglio, Andrea Messeri, Roberto Barale, Lisa Giovannelli, Alessandro Mugelli…

    Citation: BMC Cancer 2019 19:113

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  43. Content type: Research article

    Low-grade squamous intraepithelial lesion/cervical intraepithelial neoplasia grade 1 (LSIL/CIN1) preceded by colposcopy guided biopsy is recommended conservative follow-up, although some of these lesions are a...

    Authors: Jing Ye, Xiao-dong Cheng, Bei Cheng, Yi-fan Cheng, Xiao-Jing Chen and Wei-guo Lu

    Citation: BMC Cancer 2019 19:112

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  44. Content type: Research article

    MiRNAs that are potential biomarkers for predicting prognosis for acute myeloid leukemia (AML) have been identified. However, comprehensive analyses investigating the association between miRNA expression profi...

    Authors: Yao Xue, Yuqiu Ge, Meiyun Kang, Cong Wu, Yaping Wang, Liucheng Rong and Yongjun Fang

    Citation: BMC Cancer 2019 19:109

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  45. Content type: Research article

    Visceral adipose tissue (VAT) has been identified as the essential fat depot for pathogenetic theories that associateobesity and colon cancer. LINE-1 hypomethylation has been mostly detected in tumor colon tis...

    Authors: Daniel Castellano-Castillo, Sonsoles Morcillo, Ana B. Crujeiras, Lidia Sánchez-Alcoholado, Mercedes Clemente-Postigo, Esperanza Torres, Francisco José Tinahones and Manuel Macias-Gonzalez

    Citation: BMC Cancer 2019 19:93

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  46. Content type: Research article

    Precise diagnosis of the tissue origin for metastatic cancer of unknown primary (CUP) is essential for deciding the treatment scheme to improve patients’ prognoses, since the treatment for the metastases is th...

    Authors: Mengyao Li, Hongdong Li, Guini Hong, Zhongjie Tang, Guanghao Liu, Xiaofang Lin, Mingzhang Lin, Lishuang Qi and Zheng Guo

    Citation: BMC Cancer 2019 19:67

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