Skip to main content


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 14 of 16

  1. Content type: Technical advance

    MUTYH-associated polyposis (MAP) is an autosomal recessive form of intestinal polyposis predisposing to colorectal carcinoma. High resolution melting analysis (HRMA) is a mutation scanning method that allows det...

    Authors: Rossella Tricarico, Francesca Crucianelli, Antonio Alvau, Claudio Orlando, Roberta Sestini, Francesco Tonelli, Rosa Valanzano and Maurizio Genuardi

    Citation: BMC Cancer 2011 11:305

    Published on:

  2. Content type: Research article

    To evaluate the association between polymorphisms involved in DNA repair and oxidative stress genes and mean dose to whole breast on acute skin reactions (erythema) in breast cancer (BC) patients following sin...

    Authors: Elisabetta Falvo, Lidia Strigari, Gennaro Citro, Carolina Giordano, Stefano Arcangeli, Antonella Soriani, Daniela D'Alessio, Paola Muti, Giovanni Blandino, Isabella Sperduti and Paola Pinnarò

    Citation: BMC Cancer 2011 11:291

    Published on:

  3. Content type: Research article

    Since a substantial percentage of ovarian cancers express gonadotropin receptors and are responsive to the relatively high concentrations of pituitary gonadotropins during the postmenopausal years, it has been...

    Authors: Juan Cui, Brooke M Miner, Joanna B Eldredge, Susanne W Warrenfeltz, Phuongan Dam, Ying Xu and David Puett

    Citation: BMC Cancer 2011 11:280

    Published on:

  4. Content type: Research article

    Inter-individual variation in DNA repair capacity is thought to modulate breast cancer risk. The phenotypic mutagen sensitivity assay (MSA) measures DNA strand breaks in lymphocytes; women with familial and sp...

    Authors: Luisel J Ricks-Santi, Lara E Sucheston, Yang Yang, Jo L Freudenheim, Claudine J Isaacs, Marc D Schwartz, Ramona G Dumitrescu, Catalin Marian, Jing Nie, Dominica Vito, Stephen B Edge and Peter G Shields

    Citation: BMC Cancer 2011 11:278

    Published on:

  5. Content type: Research article

    Raf-1 kinase inhibitor protein (RKIP) has been reported to negatively regulate signal kinases of major survival pathways. RKIP activity is modulated in part by phosphorylation on Serine 153 by protein kinase C...

    Authors: Sara Huerta-Yepez, Nam K Yoon, Angeles Hernandez-Cueto, Vei Mah, Clara M Rivera-Pazos, Devasis Chatterjee, Mario I Vega, Erin L Maresh, Steve Horvath, David Chia, Benjamin Bonavida and Lee Goodglick

    Citation: BMC Cancer 2011 11:259

    Published on:

  6. Content type: Research article

    Phospholipase C epsilon 1 (PLCE1) (an effector of Ras) belonging to the phospholipase family plays crucial roles in carcinogenesis and progression of several cancers, including squamous cell carcinoma of the h...

    Authors: Hongxia Ma, Li-E Wang, Zhensheng Liu, Erich M Sturgis and Qingyi Wei

    Citation: BMC Cancer 2011 11:258

    Published on:

  7. Content type: Research article

    Molecular predictors of bevacizumab efficacy in colorectal cancer have not been identified yet. Specific VEGF polymorphisms may affect gene transcription and therefore indirectly influence the efficacy of bevaciz...

    Authors: Fotios Loupakis, Annamaria Ruzzo, Lisa Salvatore, Chiara Cremolini, Gianluca Masi, Paolo Frumento, Marta Schirripa, Vincenzo Catalano, Nadia Galluccio, Emanuele Canestrari, Bruno Vincenzi, Daniele Santini, Katia Bencardino, Vincenzo Ricci, Mariangela Manzoni, Marco Danova…

    Citation: BMC Cancer 2011 11:247

    Published on:

  8. Content type: Research article

    Clear cell renal cell carcinoma (ccRCC) is characterized by recurrent copy number alterations (CNAs) and loss of heterozygosity (LOH), which may have potential diagnostic and prognostic applications. Here, we ...

    Authors: Ingrid Cifola, Cristina Bianchi, Eleonora Mangano, Silvia Bombelli, Fabio Frascati, Ester Fasoli, Stefano Ferrero, Vitalba Di Stefano, Maria A Zipeto, Fulvio Magni, Stefano Signorini, Cristina Battaglia and Roberto A Perego

    Citation: BMC Cancer 2011 11:244

    Published on:

  9. Content type: Research article

    Heterozygosity of TP53 missense mutations is related to the phenomenon of the dominant-negative effect (DNE). To estimate the importance of the DNE of TP53 mutations, we analysed the percentage of cancer cases sh...

    Authors: Ewelina Stoczynska-Fidelus, Malgorzata Szybka, Sylwester Piaskowski, Michal Bienkowski, Krystyna Hulas-Bigoszewska, Mateusz Banaszczyk, Izabela Zawlik, Dorota Jesionek-Kupnicka, Radzislaw Kordek, Pawel P Liberski and Piotr Rieske

    Citation: BMC Cancer 2011 11:243

    Published on:

  10. Content type: Research article

    Increased cyclooxygenase activity promotes progression of colorectal cancer, but the mechanisms behind COX-2 induction remain elusive. This study was therefore aimed to define external cell signaling and trans...

    Authors: Annika Gustafsson Asting, Helena Carén, Marianne Andersson, Christina Lönnroth, Kristina Lagerstedt and Kent Lundholm

    Citation: BMC Cancer 2011 11:238

    Published on:

  11. Content type: Research article

    Long-term gene silencing throughout cell division is generally achieved by DNA methylation and other epigenetic processes. Aberrant DNA methylation is now widely recognized to be associated with cancer and oth...

    Authors: Mercedes Dávalos-Salas, Mayra Furlan-Magaril, Edgar González-Buendía, Christian Valdes-Quezada, Erandi Ayala-Ortega and Félix Recillas-Targa

    Citation: BMC Cancer 2011 11:232

    Published on:

  12. Content type: Research article

    N-methyl-D-aspartate receptors (NMDAR) act as tumor suppressors of digestive malignancies. The expression and genetic methylation patterns of NMDAR2B in non-small cell lung cancer (NSCLC) are unknown.

    Authors: Hajime Tamura, Makoto Suzuki, Yasumitsu Moriya, Hidehisa Hoshino, Tatsuro Okamoto, Shigetoshi Yoshida and Ichiro Yoshino

    Citation: BMC Cancer 2011 11:220

    Published on:

  13. Content type: Research article

    Identification of predictive markers of response to treatment is a major objective in breast cancer. A major problem in clinical sampling is the variability of RNA templates, requiring accurate management of t...

    Authors: Patricia de Cremoux, Fabien Valet, David Gentien, Jacqueline Lehmann-Che, Véronique Scott, Carine Tran-Perennou, Catherine Barbaroux, Nicolas Servant, Sophie Vacher, Brigitte Sigal-Zafrani, Marie-Christine Mathieu, Philippe Bertheau, Jean-Marc Guinebretière, Bernard Asselain, Michel Marty and Frédérique Spyratos

    Citation: BMC Cancer 2011 11:215

    Published on:

  14. Content type: Research article

    Osteosarcoma (OS) is a bone malignancy which occurs primarily in adolescents. Since it occurs during a period of rapid growth, genes important in bone formation and growth are plausible modifiers of risk. Gene...

    Authors: Lisa Mirabello, Kai Yu, Sonja I Berndt, Laurie Burdett, Zhaoming Wang, Salma Chowdhury, Kedest Teshome, Arinze Uzoka, Amy Hutchinson, Tom Grotmol, Chester Douglass, Richard B Hayes, Robert N Hoover and Sharon A Savage

    Citation: BMC Cancer 2011 11:209

    Published on:

  15. Content type: Research article

    Metastatic melanoma represents a major clinical problem. Its incidence continues to rise in western countries and there are currently no curative treatments. While mutation of the P53 tumour suppressor gene is a ...

    Authors: Kelly A Avery-Kiejda, Nikola A Bowden, Amanda J Croft, Lyndee L Scurr, Carla F Kairupan, Katie A Ashton, Bente A Talseth-Palmer, Helen Rizos, Xu D Zhang, Rodney J Scott and Peter Hersey

    Citation: BMC Cancer 2011 11:203

    Published on:

  16. Content type: Research article

    Histiocytic malignancies in both humans and dogs are rare and poorly understood. While canine histiocytic sarcoma (HS) is uncommon in the general domestic dog population, there is a strikingly high incidence i...

    Authors: Benoit Hedan, Rachael Thomas, Alison Motsinger-Reif, Jerome Abadie, Catherine Andre, John Cullen and Matthew Breen

    Citation: BMC Cancer 2011 11:201

    Published on:

  17. Content type: Research article

    Recent data in esophageal cancer suggests the variant allele of a single-nucleotide polymorphism (SNP) in XRCC1 may be associated with resistance to radiochemotherapy. However, this SNP has not been assessed in a...

    Authors: Harry H Yoon, Paul J Catalano, Kathleen M Murphy, Todd C Skaar, Santosh Philips, Mark Powell, Elizabeth A Montgomery, Michael J Hafez, Steven M Offer, Geoffrey Liu, Stephen J Meltzer, Xifeng Wu, Arlene A Forastiere, Al B Benson, Lawrence R Kleinberg and Michael K Gibson

    Citation: BMC Cancer 2011 11:176

    Published on:

  18. Content type: Research article

    The DNA repair gene Ku70, an important member of non-homologous end-joining repair system, is thought to play an important role in the repairing of DNA double strand breaks. It is known that defects in double str...

    Authors: Mei-Due Yang, Hwei-Chung Wang, Wen-Shin Chang, Chia-Wen Tsai and Da-Tian Bau

    Citation: BMC Cancer 2011 11:174

    Published on:

  19. Content type: Research article

    MAP2K4 is a putative tumor and metastasis suppressor gene frequently found to be deleted in various cancer types. We aimed to conduct a comprehensive analysis of this gene to assess its involvement in ovarian ca...

    Authors: Sally J Davis, David YH Choong, Manasa Ramakrishna, Georgina L Ryland, Ian G Campbell and Kylie L Gorringe

    Citation: BMC Cancer 2011 11:173

    Published on:

  20. Content type: Research article

    A subset of lung cancer patients harbour EGFR somatic mutations in their tumours and are candidates for treatment with EGFR tyrosine kinase inhibitors. In a few cases EGFR mutations have also been found in the ge...

    Authors: Irene Centeno, Pilar Blay, Iñigo Santamaría, Aurora Astudillo, Ana S Pitiot, Fernando G Osorio, Patricia González-Arriaga, Fernando Iglesias, Primitiva Menéndez, Adonina Tardón, Jose M Freije and Milagros Balbín

    Citation: BMC Cancer 2011 11:172

    Published on:

  21. Content type: Research article

    Mesothelioma is an aggressive neoplasm with few effective treatments, one being cytoreductive surgery. We previously described a test, based on differential expression levels of four genes, to predict clinical...

    Authors: Gavin J Gordon, Raphael Bueno and David J Sugarbaker

    Citation: BMC Cancer 2011 11:169

    Published on:

  22. Content type: Research article

    Aquaporins (AQPs) have been recognized to promote tumor progression, invasion, and metastasis and are therefore recognized as promising targets for novel anti-cancer therapies. Potentially relevant AQPs in dis...

    Authors: Arne Warth, Thomas Muley, Michael Meister, Esther Herpel, Anita Pathil, Hans Hoffmann, Philipp A Schnabel, Christian Bender, Andreas Buness, Peter Schirmacher and Ruprecht Kuner

    Citation: BMC Cancer 2011 11:161

    Published on:

  23. Content type: Research article

    A cross-talk between different receptor tyrosine kinases (RTKs) plays an important role in the pathogenesis of human cancers.

    Authors: Chen-Yun Yeh, Shin-Mei Shin, Hsuan-Heng Yeh, Tsung-Jung Wu, Jyh-Wei Shin, Tsuey-Yu Chang, Giri Raghavaraju, Chung-Ta Lee, Jung-Hsien Chiang, Vincent S Tseng, Yuan-Chii G Lee, Cheng-Huang Shen, Nan-Haw Chow and Hsiao-Sheng Liu

    Citation: BMC Cancer 2011 11:139

    Published on:

  24. Content type: Research article

    Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage. Here, we sought to isolate cell-free DNA released into the plasma o...

    Authors: Immacolata Andolfo, Giuseppe Petrosino, Loredana Vecchione, Pasqualino De Antonellis, Mario Capasso, Donatella Montanaro, Marica Gemei, Giancarlo Troncone, Achille Iolascon, Michele Orditura, Fortunato Ciardiello, Fernando De Vita and Massimo Zollo

    Citation: BMC Cancer 2011 11:126

    Published on:

  25. Content type: Research article

    The PTEN tumour suppressor gene and PIK3CA proto-oncogene encode proteins which contribute to regulation and propagation of signal transduction through the PI3K/AKT signalling pathway. This study investigates the...

    Authors: Adam Naguib, James C Cooke, Lisa Happerfield, Lucy Kerr, Laura J Gay, Robert N Luben, Richard Y Ball, Panagiota N Mitrou, Alison McTaggart and Mark J Arends

    Citation: BMC Cancer 2011 11:123

    Published on:

  26. Content type: Research article

    Phosphatase of regenerating liver-3 (PRL-3) has deserved attention as a crucial molecule in the multiple steps of metastasis. In the present study, we examined the mechanisms regulating PRL-3 expression, and a...

    Authors: Akira Ooki, Keishi Yamashita, Shiro Kikuchi, Shinichi Sakuramoto, Natsuya Katada, Mina Waraya, Hiroshi Kawamata, Hiroshi Nishimiya, Kazunori Nakamura and Masahiko Watanabe

    Citation: BMC Cancer 2011 11:122

    Published on:

  27. Content type: Research article

    Latexin, also known as endogenous carboxypeptidase inhibitor (CPI), has been found to inhibit mouse stem cell populations and lymphoma cell proliferation, demonstrating its potential role as a tumor suppressor...

    Authors: Yong Li, Zhuoma Basang, Huirong Ding, Zheming Lu, Tao Ning, Haoran Wei, Hong Cai and Yang Ke

    Citation: BMC Cancer 2011 11:121

    Published on:

  28. Content type: Research article

    KLK15 over-expression is reported to be a significant predictor of reduced progression-free survival and overall survival in ovarian cancer. Our aim was to analyse the KLK15 gene for putative functional single n...

    Authors: Jyotsna Batra, Christina M Nagle, Tracy O'Mara, Melanie Higgins, Ying Dong, Olivia L Tan, Felicity Lose, Lene Marie Skeie, Srilakshmi Srinivasan, Kelly L Bolton, Honglin Song, Susan J Ramus, Simon A Gayther, Paul DP Pharoah, Mary-Anne Kedda, Amanda B Spurdle…

    Citation: BMC Cancer 2011 11:119

    Published on:

  29. Content type: Research article

    The human apurinic/apyrimidinic endonuclease 1/Redox effector factor-1 (APE1/Ref-1) is implicated in tumor development and progression. Recently, the APE1/Ref-1 promoter -141T/G variant (rs1760944) has been repor...

    Authors: Keke Zhou, Dezhi Hu, Juan Lu, Weiwei Fan, Hongliang Liu, Hongyan Chen, Gong Chen, Qingyi Wei, Guhong Du, Ying Mao, Daru Lu and Liangfu Zhou

    Citation: BMC Cancer 2011 11:104

    Published on:

  30. Content type: Research article

    DNA methylation in the SHOX2 locus was previously used to reliably detect lung cancer in a group of critical controls, including 'cytologically negative' samples with no visible tumor cell content, at a high spec...

    Authors: Katja U Schneider, Dimo Dietrich, Michael Fleischhacker, Gunda Leschber, Johannes Merk, Frank Schäper, Henk R Stapert, Erik R Vossenaar, Sabine Weickmann, Volker Liebenberg, Christoph Kneip, Anke Seegebarth, Fikret Erdogan, Gudrun Rappold and Bernd Schmidt

    Citation: BMC Cancer 2011 11:102

    Published on:

  31. Content type: Research article

    The aim of this study was to identify critical genes involved in non-small cell lung cancer (NSCLC) pathogenesis that may lead to a more complete understanding of this disease and identify novel molecular targ...

    Authors: Genni M Newnham, Matthew Conron, SueAnne McLachlan, Alexander Dobrovic, Hongdo Do, Jason Li, Kenneth Opeskin, Natalie Thompson, Gavin M Wright and David M Thomas

    Citation: BMC Cancer 2011 11:93

    Published on:

  32. Content type: Research article

    Pregnane X receptor (PXR) is a key transcription factor that regulates drug metabolizing enzymes such as cytochrome P450 (CYP) 3A4, and plays important roles in intestinal first-pass metabolism. Although there...

    Authors: Wataru Habano, Toshie Gamo, Jun Terashima, Tamotsu Sugai, Koki Otsuka, Go Wakabayashi and Shogo Ozawa

    Citation: BMC Cancer 2011 11:81

    Published on:

  33. Content type: Research article

    Cervical cancer is the most common cancer among Indian women. This cancer has well defined pre-cancerous stages and evolves over 10-15 years or more. This study was undertaken to identify differentially expres...

    Authors: Thangarajan Rajkumar, Kesavan Sabitha, Neelakantan Vijayalakshmi, Sundersingh Shirley, Mayil Vahanan Bose, Gopisetty Gopal and Ganesharaja Selvaluxmy

    Citation: BMC Cancer 2011 11:80

    Published on:

  34. Content type: Research article

    One key step in gene expression is the biogenesis of mRNA ribonucleoparticle complexes (mRNPs). Formation of the mRNP requires the participation of a number of conserved factors such as the THO complex. THO in...

    Authors: María S Domínguez-Sánchez, Carmen Sáez, Miguel A Japón, Andrés Aguilera and Rosa Luna

    Citation: BMC Cancer 2011 11:77

    Published on:

  35. Content type: Research article

    The genetics of advanced biliary tract cancers (BTC), which encompass intra- and extra-hepatic cholangiocarcinomas as well as gallbladder carcinomas, are heterogeneous and remain to be fully defined.

    Authors: Vikram Deshpande, Afamefuna Nduaguba, Stephanie M Zimmerman, Sarah M Kehoe, Laura E MacConaill, Gregory Y Lauwers, Cristina Ferrone, Nabeel Bardeesy, Andrew X Zhu and Aram F Hezel

    Citation: BMC Cancer 2011 11:60

    Published on:

  36. Content type: Research article

    CD26 (dipeptidyl peptidase IV, DPPIV) is a 110 kDa surface glycoprotein expressed in most normal tissues, and is a potential novel therapeutic target for selected cancers. Our work evaluates the mechanism invo...

    Authors: Masako Abe, Pamela A Havre, Yasuyo Urasaki, Kei Ohnuma, Chikao Morimoto, Long H Dang and Nam H Dang

    Citation: BMC Cancer 2011 11:51

    Published on:

  37. Content type: Research article

    FMS-like tyrosine kinase 3 (FLT3) is a commonly mutated protein in a variety of human acute leukemias. Mutations leading to constitutively active FLT3, including internal tandem duplications of the juxtamembra...

    Authors: Steven E Suter, George W Small, Eric L Seiser, Rachael Thomas, Matthew Breen and Kristy L Richards

    Citation: BMC Cancer 2011 11:38

    Published on:

  38. Content type: Research article

    Neuroblastoma is a paediatric cancer which originates from precursor cells of the sympathetic nervous system and accounts for 15% of childhood cancer mortalities. With regards to the role of miRNAs in neurobla...

    Authors: Amanda Tivnan, Lorraine Tracey, Patrick G Buckley, Leah C Alcock, Andrew M Davidoff and Raymond L Stallings

    Citation: BMC Cancer 2011 11:33

    Published on:

  39. Content type: Research article

    Activating mutations of the epidermal growth factor receptor (EGFR) confer sensitivity to the tyrosine kinase inhibitors (TKi), gefitinib and erlotinib. We analysed EGFR expression, EGFR mutation status and gene ...

    Authors: Caterina Peraldo-Neia, Giorgia Migliardi, Maurizia Mello-Grand, Filippo Montemurro, Raffaella Segir, Ymera Pignochino, Giuliana Cavalloni, Bruno Torchio, Luciano Mosso, Giovanna Chiorino and Massimo Aglietta

    Citation: BMC Cancer 2011 11:31

    Published on:

  40. Content type: Research article

    The c-Myb transcription factor regulates differentiation and proliferation in hematopoietic cells, stem cells and epithelial cells. Although oncogenic versions of c-Myb were first associated with leukemias, ov...

    Authors: Anita M Quintana, Fan Liu, John P O'Rourke and Scott A Ness

    Citation: BMC Cancer 2011 11:30

    Published on:

  41. Content type: Research article

    Polycomb Group (PcG) proteins are epigenetic silencers involved in maintaining cellular identity, and their deregulation can result in cancer. Expression of Mel-18 and Bmi-1 has been studied in tumor tissue, b...

    Authors: Margit LH Riis, Torben Lüders, Anne-Jorunn Nesbakken, Hilde S Vollan, Vessela Kristensen and Ida RK Bukholm

    Citation: BMC Cancer 2010 10:686

    Published on:

  42. Content type: Research article

    The protein AGR2 is a putative member of the protein disulfide isomerase family and was first identified as a homolog of the Xenopus laevis gene XAG-2. AGR2 has been implicated in a number of human cancers. In pa...

    Authors: Erin L Maresh, Vei Mah, Mohammad Alavi, Steve Horvath, Lora Bagryanova, Emily S Liebeskind, Laura A Knutzen, Yong Zhou, David Chia, Alvin Y Liu and Lee Goodglick

    Citation: BMC Cancer 2010 10:680

    Published on:

  43. Content type: Research article

    The presence of circulating tumor cells (CTC) in the peripheral blood of cancer patients has been described for various solid tumors and their clinical relevance has been shown. CTC detection based on the anal...

    Authors: Eva Obermayr, Fatima Sanchez-Cabo, Muy-Kheng M Tea, Christian F Singer, Michael Krainer, Michael B Fischer, Jalid Sehouli, Alexander Reinthaller, Reinhard Horvat, Georg Heinze, Dan Tong and Robert Zeillinger

    Citation: BMC Cancer 2010 10:666

    Published on:

  44. Content type: Research article

    Accurate staging of colorectal cancer (CRC) with clinicopathological parameters is important for predicting prognosis and guiding treatment but provides no information about organ site of metastases. Patterns ...

    Authors: Sjoerd C Bruin, Christiaan Klijn, Gerrit-Jan Liefers, Linde M Braaf, Simon A Joosse, Eric H van Beers, Victor J Verwaal, Hans Morreau, Lodewyk F Wessels, Marie-Louise F van Velthuysen, Rob AEM Tollenaar and Laura J van't Veer

    Citation: BMC Cancer 2010 10:662

    Published on:

  45. Content type: Research article

    Basal-like breast cancers (BLBC) are aggressive breast cancers for which, so far, no targeted therapy is available because they typically lack expression of hormone receptors and HER2. Phenotypic features of B...

    Authors: Henne Holstege, Hugo M Horlings, Arno Velds, Anita Langerød, Anne-Lise Børresen-Dale, Marc J van de Vijver, Petra M Nederlof and Jos Jonkers

    Citation: BMC Cancer 2010 10:654

    Published on:

  46. Content type: Research article

    Similar to human breast cancer mammary tumors of the female dog are commonly associated with a fatal outcome due to the development of distant metastases. However, the molecular defects leading to metastasis a...

    Authors: Robert Klopfleisch, Dido Lenze, Michael Hummel and Achim D Gruber

    Citation: BMC Cancer 2010 10:618

    Published on:

  47. Content type: Research article

    Epigenetic silencing of tumor suppressor genes play important roles in NPC tumorgenesis. Tissue factor pathway inhibitor-2 (TFPI-2), is a protease inhibitor. Recently, TFPI-2 was suggested to be a tumor suppresso...

    Authors: Shumin Wang, Xue Xiao, Xiaoying Zhou, Tingting Huang, Chunping Du, Nana Yu, Yingxi Mo, Longde Lin, Jinyan Zhang, Ning Ma, Mariko Murata, Guangwu Huang and Zhe Zhang

    Citation: BMC Cancer 2010 10:617

    Published on: