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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 15 of 18

  1. Studies on the association between MDM2 SNP309 (T > G) and gastric cancer have reported conflicting results. Thus, the aim of this study was to investigate whether MDM2 SNP309 is associated with susceptibility an...

    Authors: Xiaolin Pan, Yuqin Li, Jin Feng, Xiaoyong Wang, Bo Hao, Ruihua Shi and Guoxin Zhang

    Citation: BMC Cancer 2013 13:126

    Content type: Research article

    Published on:

  2. The malignant potential of tumour cells may be influenced by the molecular nature of KRAS mutations being codon 13 mutations less aggressive than codon 12 ones. Their metabolic profile is also different, with an ...

    Authors: Agnès Figueras, Maria Antonia Arbos, Maria Teresa Quiles, Francesc Viñals, Josep Ramón Germà and Gabriel Capellà

    Citation: BMC Cancer 2013 13:125

    Content type: Research article

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  3. Cytogenetic and gene expression analyses in head and neck squamous cell carcinomas (HNSCC) have allowed identification of genomic aberrations that may contribute to cancer pathophysiology. Nevertheless, the mo...

    Authors: Sandra Bernaldo de Quirós, Anna Merlo, Pablo Secades, Iriana Zambrano, Ines Saenz de Santa María, Nerea Ugidos, Eloisa Jantus-Lewintre, Rafael Sirera, Carlos Suarez and María-Dolores Chiara

    Citation: BMC Cancer 2013 13:116

    Content type: Research article

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  4. The management of advanced stage non-small cell lung cancer is increasingly based on diagnostic and predictive analyses performed mostly on limited amounts of tumor tissue. The evaluation of Epidermal Growth F...

    Authors: Luisella Righi, Alessandra Cuccurullo, Simona Vatrano, Susanna Cappia, Daniela Giachino, Paolo De Giuli, Mara Ardine, Silvia Novello, Marco Volante, Giorgio V Scagliotti and Mauro Papotti

    Citation: BMC Cancer 2013 13:114

    Content type: Technical advance

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  5. Experimental data suggest that mitochondria is involved in tumorigenesis. However, little is known about the qualitative and quantitative changes of mtDNA in colorectal cancer tissues. We therefore conducted p...

    Authors: HaiHong Cui, Ping Huang, ZhiJing Wang, YunXin Zhang, ZhenHua Zhang, Wei Xu, XiaoPeng Wang, Ying Han and XiaoMing Guo

    Citation: BMC Cancer 2013 13:110

    Content type: Research article

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  6. Although both excision repair cross-complementing group 1 (ERCC1) and breast cancer susceptibility gene 1 (BRCA1) can be effective biomarkers for chemosensitivity in primary malignant tumors, their applicabili...

    Authors: Lu Yuanming, Zhang Lineng, Song Baorong, Peng Junjie and Cai Sanjun

    Citation: BMC Cancer 2013 13:103

    Content type: Research article

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  7. Many studies support the hypothesis that specific microRNA (miRNA) expression in various human cancers including hepatocarcinogenesis is closely associated with diagnosis and prognosis. In hepatocellular carci...

    Authors: Yoshiki Murakami, Akihiro Tamori, Saori Itami, Toshihito Tanahashi, Hidenori Toyoda, Masami Tanaka, Weihong Wu, Nariso Brojigin, Yuji Kaneoka, Atsuyuki Maeda, Takashi Kumada, Norifumi Kawada, Shoji Kubo and Masahiko Kuroda

    Citation: BMC Cancer 2013 13:99

    Content type: Research article

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  8. Poly (ADP-ribose) polymerase 1 (PARP1) overexpression plays a critical role in ovarian cancer progression and the clinical development of PARP1 inhibitors to treat BRCA-mutated ovarian cancer has advanced rapi...

    Authors: Fang-Fang Bi, Da Li and Qing Yang

    Citation: BMC Cancer 2013 13:90

    Content type: Research article

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  9. Gene silencing of the repair genes MLH1 and MGMT was shown to be a mechanism underlying the development of microsatellite instability (MSI), a phenotype frequently associated with various human malignancies. Rece...

    Authors: Juliana Carvalho Santos, André Uchimura Bastos, Janete Maria Cerutti and Marcelo Lima Ribeiro

    Citation: BMC Cancer 2013 13:79

    Content type: Research article

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  10. The risk of developing cutaneous squamous cell carcinoma (SCC) is markedly increased in organ transplant recipients (OTRs) compared to the normal population. Next to sun exposure, the immunosuppressive regimen...

    Authors: Liesbeth Hameetman, Suzan Commandeur, Jan Nico Bouwes Bavinck, Hermina C Wisgerhof, Frank R de Gruijl, Rein Willemze, Leon Mullenders, Cornelis P Tensen and Harry Vrieling

    Citation: BMC Cancer 2013 13:58

    Content type: Research article

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  11. Acute lymphoblastic leukemia (ALL) diagnosed within the first month of life is classified as congenital ALL and has a significantly worse outcome than ALL diagnosed in older children. This suggests that congen...

    Authors: Vivian Y Chang, Giuseppe Basso, Kathleen M Sakamoto and Stanley F Nelson

    Citation: BMC Cancer 2013 13:55

    Content type: Research article

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  12. Acinic cell carcinoma (ACC) is a rare malignant epithelial neoplasm characterized by the presence of malignant tubular acinar exocrine gland structures. Diagnosis is generally made in salivary glands and in th...

    Authors: Carla B Ripamonti, Mara Colombo, Patrizia Mondini, Manoukian Siranoush, Bernard Peissel, Loris Bernard, Paolo Radice and Maria Luisa Carcangiu

    Citation: BMC Cancer 2013 13:46

    Content type: Case report

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  13. The aim of this study is to evaluate the associations between vascular endothelial growth factor (VEGF) Single-nucleotide polymorphisms (SNPs) and clinical outcome in advanced gastric cancer patients treated w...

    Authors: Sung Yong Oh, Hyuk-Chan Kwon, Sung Hyun Kim, Suee Lee, Ji Hyun Lee, Jung-Ah Hwang, Seung Hyun Hong, Christian A Graves, Kevin Camphausen, Hyo-Jin Kim and Yeon-Su Lee

    Citation: BMC Cancer 2013 13:43

    Content type: Research article

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  14. The receptor activator of NF-κB (RANK), its ligand (RANKL) and osteoprotegerin (OPG) have been reported to play a role in the pathophysiological bone turnover and in the pathogenesis of breast cancer. Based on...

    Authors: Jasmin Teresa Ney, Ingolf Juhasz-Boess, Frank Gruenhage, Stefan Graeber, Rainer Maria Bohle, Michael Pfreundschuh, Erich Franz Solomayer and Gunter Assmann

    Citation: BMC Cancer 2013 13:40

    Content type: Research article

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  15. MicroRNA (miRNA)-related single nucleotide polymorphisms (SNPs) may compromise miRNA binding affinity and modify mRNA expression levels of the target genes, thus leading to cancer susceptibility. However, few ...

    Authors: Ting-Yan Shi, Xiao-Jun Chen, Mei-Ling Zhu, Meng-Yun Wang, Jing He, Ke-Da Yu, Zhi-Ming Shao, Meng-Hong Sun, Xiao-Yan Zhou, Xi Cheng, Xiaohua Wu and Qingyi Wei

    Citation: BMC Cancer 2013 13:19

    Content type: Research article

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  16. G-protein-coupled estrogen receptor (GPER/GPR30) was reported to bind 17β-estradiol (E2), tamoxifen, and ICI 182,780 (fulvestrant) and promotes activation of epidermal growth factor receptor (EGFR)-mediated signa...

    Authors: Venkatakrishna Rao Jala, Brandie N Radde, Bodduluri Haribabu and Carolyn M Klinge

    Citation: BMC Cancer 2012 12:624

    Content type: Research article

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  17. The minor allele of SNP rs3803662 has been shown to correlate with increased breast cancer risk and with lower expression of TOX3. The SNP is closely located to TOX3 residing within an uncharacterised gene LOC643...

    Authors: Eydis Th Gudmundsdottir, Rosa B Barkardottir, Adalgeir Arason, Haukur Gunnarsson, Laufey Th Amundadottir, Bjarni A Agnarsson, Oskar Th Johannsson and Inga Reynisdottir

    Citation: BMC Cancer 2012 12:621

    Content type: Research article

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  18. The causal association between persistent human papillomavirus (HPV) infection and cervical cancer has been established, but the mechanisms that favor HPV persistence in cervical cells are still unknown. The d...

    Authors: Anna Gillio-Tos, Maria da Graça Bicalho, Valentina Fiano, Chiara Grasso, Valentina Tarallo, Laura De Marco, Morena Trevisan, MarinaBarbaradeSousa Xavier, Renata Slowik, Newton S Carvalho, Carlos A Maestri, Hadriano M Lacerda, Daniela Zugna, Lorenzo Richiardi and Franco Merletti

    Citation: BMC Cancer 2012 12:618

    Content type: Research article

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  19. The oxidative stress mechanism is of particular interest in the pathogenesis of glioma, given the high rate of oxygen metabolism in the brain. Potential links between polymorphisms of antioxidant genes and gli...

    Authors: Peng Zhao, Lin Zhao, Peng Zou, Ailin Lu, Ning Liu, Wei Yan, Chunsheng Kang, Zhen Fu, Yongping You and Tao Jiang

    Citation: BMC Cancer 2012 12:617

    Content type: Research article

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  20. Esophageal squamous cell carcinoma (ESCC) shows geographic variations in incidence, with high incidences (>50/105 person-years) in central Asia, including North Eastern Iran (Golestan) and Northern India (Kashmir...

    Authors: Behnoush Abedi-Ardekani, Nazir Ahmad Dar, Mohammad Muzaffar Mir, Showkat Ahmad Zargar, M Muqbool Lone, Ghyslaine Martel-Planche, Stéphanie Villar, Mounia Mounawar, Farrokh Saidi, Reza Malekzadeh and Pierre Hainaut

    Citation: BMC Cancer 2012 12:602

    Content type: Research article

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  21. The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. The aims of this study were to investigate the role of p21 SNP-rs1801270 and...

    Authors: Ning Wang, Shizhuo Wang, Qiao Zhang, Yanming Lu, Heng Wei, Wei Li, Shulan Zhang, Duo Yin and Yangling Ou

    Citation: BMC Cancer 2012 12:589

    Content type: Research article

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  22. The M-type phospholipase A2 receptor (PLA2R1) plays a crucial role in several signaling pathways and may act as tumor-suppressor. This study examined the expression and methylation of the PLA2R1 gene in Jurkat an...

    Authors: Mario Menschikowski, Uwe Platzbecker, Albert Hagelgans, Margot Vogel, Christian Thiede, Claudia Schönefeldt, Renate Lehnert, Graeme Eisenhofer and Gabriele Siegert

    Citation: BMC Cancer 2012 12:576

    Content type: Research article

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  23. Long interspersed nucleotide element 1 (LINE-1) hypomethylation is suggested to play a role in the progression of colorectal cancer (CRC). To assess intra-patient heterogeneity of LINE-1 methylation in CRC and...

    Authors: Aika Matsunoki, Kazuyuki Kawakami, Masanori Kotake, Mami Kaneko, Hirotaka Kitamura, Akishi Ooi, Go Watanabe and Toshinari Minamoto

    Citation: BMC Cancer 2012 12:574

    Content type: Research article

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  24. Esophageal squamous cell carcinoma (ESCC) shows a 5-year survival rate below 10%, demonstrating the urgency in improving its treatment. Alterations in epidermal growth factor receptors are closely related to m...

    Authors: Isabela Martins Gonzaga, Sheila Coelho Soares-Lima, Paulo Thiago Souza de Santos, Tania Cristina Moita Blanco, Bruno Souza Bianchi de Reis, Danielle Carvalho Quintella, Ivanir Martins de Oliveira, Paulo Antonio Silvestre de Faria, Cleber Dario Pinto Kruel, Nelson Adami Andreollo, Tatiana Almeida de Simão and Luis Felipe Ribeiro Pinto

    Citation: BMC Cancer 2012 12:569

    Content type: Research article

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  25. Rash, liver dysfunction, and diarrhea are known major adverse events associated with erlotinib and gefitinib. However, clinical trials with gefitinib have reported different proportions of adverse events compa...

    Authors: Tomohiro Suzumura, Tatsuo Kimura, Shinzoh Kudoh, Kanako Umekawa, Misato Nagata, Kuniomi Matsuura, Hidenori Tanaka, Shigeki Mitsuoka, Naruo Yoshimura, Yukimi Kira, Toshiyuki Nakai and Kazuto Hirata

    Citation: BMC Cancer 2012 12:568

    Content type: Research article

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  26. Rare, heterozygous germline mutations in the RAD51C gene have been found in breast and ovarian cancer families. In the Finnish population, we have identified two founder mutations in RAD51C that increase the risk...

    Authors: Liisa M Pelttari, Riikka Nurminen, Alexandra Gylfe, Lauri A Aaltonen, Johanna Schleutker and Heli Nevanlinna

    Citation: BMC Cancer 2012 12:552

    Content type: Research article

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  27. Cancer is an extremely heterogeneous group of diseases traditionally categorized according to tissue of origin. However, even among patients with the same cancer subtype the cellular alterations at the molecul...

    Authors: Lasse Sommer Kristensen, Tina Ellegaard Kjeldsen, Henrik Hager and Lise Lotte Hansen

    Citation: BMC Cancer 2012 12:548

    Content type: Research article

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  28. Recent studies have reported associations between a variant allele in a let-7 microRNA complementary site (LCS6) within the 3untranslated region (3UTR) of KRAS (rs61764370) and clinical outcome in metastatic co...

    Authors: Janne B Kjersem, Tone Ikdahl, Tormod Guren, Eva Skovlund, Halfdan Sorbye, Julian Hamfjord, Per Pfeiffer, Bengt Glimelius, Christian Kersten, Hiroko Solvang, Kjell M Tveit and Elin H Kure

    Citation: BMC Cancer 2012 12:534

    Content type: Research article

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  29. Human Papillomavirus (HPV) genotype distribution and co-infection occurrence was studied in cervical specimens from the city of Madrid (Spain), as a contribution to the knowledge of Human Papillomavirus genoty...

    Authors: Benjamín García-Espinosa, Ernesto Moro-Rodríguez and Emilio Álvarez-Fernández

    Citation: BMC Cancer 2012 12:533

    Content type: Research article

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  30. Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor predisposition syndromes responsible for the majority of here...

    Authors: Karin Kast, Teresa M Neuhann, Heike Görgens, Kerstin Becker, Katja Keller, Barbara Klink, Daniela Aust, Wolfgang Distler, Evelin Schröck and Hans K Schackert

    Citation: BMC Cancer 2012 12:531

    Content type: Case report

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  31. mRNA levels of members of the Vascular Endothelial Growth Factor family (VEGF-A, -B, -C, -D, Placental Growth Factor/PlGF) have been investigated as tissue-based markers of colon cancer. These studies, which u...

    Authors: Sarah Pringels, Nancy Van Damme, Bram De Craene, Piet Pattyn, Wim Ceelen, Marc Peeters and Johan Grooten

    Citation: BMC Cancer 2012 12:515

    Content type: Research article

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  32. Male breast cancer (MBC) is an uncommon and relatively uncharacterised disease accounting for <1% of all breast cancers. A significant proportion occurs in families with a history of breast cancer and in parti...

    Authors: Siddhartha Deb, Nicholas Jene, kConFab investigators and Stephen B Fox

    Citation: BMC Cancer 2012 12:510

    Content type: Research article

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  33. CST6 promoter is highly methylated in cancer, and its detection can provide important prognostic information in breast cancer patients. The aim of our study was to develop a Methylation-Sensitive High Resolution...

    Authors: Lampros Dimitrakopoulos, Panagiotis A Vorkas, Vasilis Georgoulias and Evi S Lianidou

    Citation: BMC Cancer 2012 12:486

    Content type: Research article

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  34. Genetic variants in inflammation-related genes have been associated with biliary stones and biliary tract cancers in previous studies.

    Authors: Felipe A Castro, Jill Koshiol, Ann W Hsing, Yu-Tang Gao, Asif Rashid, Lisa W Chu, Ming-Chang Shen, Bing-Shen Wang, Tian-Qua Han, Bai-He Zhang, Shelley Niwa, Kai Yu, Hong Zhang, Stephen Chanock and Gabriella Andreotti

    Citation: BMC Cancer 2012 12:468

    Content type: Research article

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  35. EndoPredict (EP) is a clinically validated multianalyte gene expression test to predict distant metastasis in ER-positive, HER2-negative breast cancer treated with endocrine therapy alone. The test is based on...

    Authors: Ralf Kronenwett, Kerstin Bohmann, Judith Prinzler, Bruno V Sinn, Franziska Haufe, Claudia Roth, Manuela Averdick, Tanja Ropers, Claudia Windbergs, Jan C Brase, Karsten E Weber, Karin Fisch, Berit M Müller, Marcus Schmidt, Martin Filipits, Peter Dubsky…

    Citation: BMC Cancer 2012 12:456

    Content type: Technical advance

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  36. While BRCA mutation carriers possess a 20-40% lifetime risk of developing ovarian cancer, knowledge about genetic modifying factors influencing the phenotypic expression remains obscure. We explored the distribut...

    Authors: Merete Bjørnslett, Stian Knappskog, Per Eystein Lønning and Anne Dørum

    Citation: BMC Cancer 2012 12:454

    Content type: Research article

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  37. Numerous efficacious chemotherapy regimens may cause thrombocytopenia. Thrombopoietin receptor (TPO-R) agonists, such as eltrombopag, represent a novel approach for the treatment of chemotherapy-induced thromb...

    Authors: Connie L Erickson-Miller, Kodandaram Pillarisetti, Jennifer Kirchner, David J Figueroa, Lone Ottesen, Anne-Marie Martin, Yuan Liu, Yasser Mostafa Kamel and Conrad Messam

    Citation: BMC Cancer 2012 12:405

    Content type: Research article

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  38. In a phase I study of angiotensin-(1–7) [Ang-(1–7)], clinical benefit was associated with reduction in plasma placental growth factor (PlGF) concentrations. The current study examines Ang-(1–7) induced changes...

    Authors: W Jeffrey Petty, Mebea Aklilu, Victor A Varela, James Lovato, Paul D Savage and Antonius A Miller

    Citation: BMC Cancer 2012 12:404

    Content type: Research article

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  39. We have recently identified HOP hoemobox (HOPX) as a tumor suppressor gene candidate, characterized by tumor-specific promoter DNA hypermethylation in human cancers, and it can remarkably inhibit tumors’ aggre...

    Authors: Mina Waraya, Keishi Yamashita, Hiroshi Katoh, Akira Ooki, Hiroshi Kawamata, Hiroshi Nishimiya, Kazunori Nakamura, Akira Ema and Masahiko Watanabe

    Citation: BMC Cancer 2012 12:397

    Content type: Research article

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  40. Increase of Serum amyloid A (SAA) level has been observed in patients with a variety of cancers. The objective of this study was to determined whether SAA level could be used as a prognostic parameter in patie...

    Authors: Jun-Ye Wang, Yu-Zhen Zheng, Juan Yang, Yue-Hao Lin, Shu-Qin Dai, Ge Zhang and Wan-Li Liu

    Citation: BMC Cancer 2012 12:365

    Content type: Research article

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  41. Renal cell carcinoma (RCC) is characterized by a number of diverse molecular aberrations that differ among individuals. Recent approaches to molecularly classify RCC were based on clinical, pathological as wel...

    Authors: Manfred Beleut, Philip Zimmermann, Michael Baudis, Nicole Bruni, Peter Bühlmann, Oliver Laule, Van-Duc Luu, Wilhelm Gruissem, Peter Schraml and Holger Moch

    Citation: BMC Cancer 2012 12:310

    Content type: Research article

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  42. Aberrant promoter CpG island hypermethylation is associated with transcriptional silencing. Tumor suppressor genes are the key targets of hypermethylation in breast cancer and therefore may lead to malignancy ...

    Authors: Jia Xu, Priya B Shetty, Weiwei Feng, Carol Chenault, Robert C Bast Jr, Jean-Pierre J Issa, Susan G Hilsenbeck and Yinhua Yu

    Citation: BMC Cancer 2012 12:243

    Content type: Research article

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  43. MYCT1, previously named MTLC, is a novel candidate tumor suppressor gene. MYCT1 was cloned from laryngeal squamous cell cancer (LSCC) and has been found to be down-regulated in LSCC; however, the regulatory deta...

    Authors: Min Yang, Wei Li, Yi-Ying Liu, Shuang Fu, Guang-Bin Qiu, Kai-Lai Sun and Wei-Neng Fu

    Citation: BMC Cancer 2012 12:219

    Content type: Research article

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  44. Breast cancer metastasis suppressor 1 (BRMS1) blocks metastasis in melanoma xenografts; however, its usefulness as a biomarker in human melanomas has not been widely studied. The goal was to measure BRMS1 expr...

    Authors: Ana Slipicevic, Ruth Holm, Elisabeth Emilsen, Anne Katrine Ree Rosnes, Danny R Welch, Gunhild M Mælandsmo and Vivi Ann Flørenes

    Citation: BMC Cancer 2012 12:73

    Content type: Research article

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  45. X-ray repair cross-complementing group 1 (XRCC1) protein plays an important role in the repair of DNA damage and adducts. Single nucleotide polymorphisms (SNPs) of XRCC1 are suspected to have some relationship wi...

    Authors: Zhigang Cui, Zhihua Yin, Xuelian Li, Wei Wu, Peng Guan and Baosen Zhou

    Citation: BMC Cancer 2012 12:71

    Content type: Research article

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  46. Most human cancers show inactivation of both pRB- and p53-pathways. While retinoblastomas are initiated by loss of the RB1 tumor suppressor gene, TP53 mutations have not been found. High expression of the p53-ant...

    Authors: Kwong-Him To, Sanja Pajovic, Brenda L Gallie and Brigitte L Thériault

    Citation: BMC Cancer 2012 12:69

    Content type: Research article

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  47. The Keap1-Nrf2 pathway has been reported to be impaired in several cancers. However, the status of Keap1-Nrf2 system in human colorectal cancer (CRC) has not been elucidated.

    Authors: Naoyuki Hanada, Takenori Takahata, Qiliang Zhou, Xulu Ye, Ruowen Sun, Jugoh Itoh, Atsushi Ishiguro, Hiroshi Kijima, Junsei Mimura, Ken Itoh, Shinsaku Fukuda and Yasuo Saijo

    Citation: BMC Cancer 2012 12:66

    Content type: Research article

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  48. Development of accurate therapeutic approaches to salivary gland neoplasms depends on better understanding of their molecular pathogenesis. Tumour growth is regulated by the balance between proliferation and a...

    Authors: Carolina Cavaliéri Gomes, Vanessa Fátima Bernardes, Marina Gonçalves Diniz, Luiz De Marco and Ricardo Santiago Gomez

    Citation: BMC Cancer 2012 12:61

    Content type: Research article

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