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Prognostics and diagnostics/biomarkers

This section considers studies on the use of genomic markers to diagnose, classify, or predict the risk or prognosis of human disease or genetic disorders as well as the analysis of the structure and function of genes and chromosomes and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  1. The gene expression profile of cytologically-normal bronchial airway epithelial cells has previously been shown to be altered in patients with lung cancer. Although bronchoscopy is often used for the diagnosis...

    Authors: Duncan H Whitney, Michael R Elashoff, Kate Porta-Smith, Adam C Gower, Anil Vachani, J Scott Ferguson, Gerard A Silvestri, Jerome S Brody, Marc E Lenburg and Avrum Spira

    Citation: BMC Medical Genomics 2015 8:18

    Content type: Research article

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  4. Early detection and treatment of non-invasive neoplasms can effectively reduce the incidence of advanced gastric carcinoma (GC), but only when the lineage is continuous between non-invasive and advanced tumour...

    Authors: Diem Thi-Ngoc Vo, Takahisa Nakayama, Hiroto Yamamoto, Ken-ichi Mukaisho, Takanori Hattori and Hiroyuki Sugihara

    Citation: BMC Medical Genomics 2015 8:6

    Content type: Research article

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  5. Adoption of new technology in both basic research and clinical settings requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a multiplexing tool that offers genome-wide copy numb...

    Authors: Joseph M Foster, Assa Oumie, Fiona S Togneri, Fabiana Ramos Vasques, Debra Hau, Morag Taylor, Emma Tinkler-Hundal, Katie Southward, Paul Medlow, Keith McGreeghan-Crosby, Iris Halfpenny, Dominic J McMullan, Phil Quirke, Katherine E Keating, Mike Griffiths, Karen G Spink…

    Citation: BMC Medical Genomics 2015 8:5

    Content type: Technical advance

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  6. Exacerbations of chronic obstructive pulmonary disease (COPD), characterized by acute deterioration in symptoms, may be due to bacterial or viral infections, environmental exposures, or unknown factors. Exacer...

    Authors: Jarrett D Morrow, Weiliang Qiu, Divya Chhabra, Stephen I Rennard, Paula Belloni, Anton Belousov, Sreekumar G Pillai and Craig P Hersh

    Citation: BMC Medical Genomics 2015 8:1

    Content type: Research article

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  7. Molecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy nu...

    Authors: Guylaine D’Amours, Mathieu Langlois, Géraldine Mathonnet, Raouf Fetni, Sonia Nizard, Myriam Srour, Frédérique Tihy, Michael S Phillips, Jacques L Michaud and Emmanuelle Lemyre

    Citation: BMC Medical Genomics 2014 7:70

    Content type: Research article

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  8. Neoadjuvant chemoradiotherapy (nCRT) followed by radical surgery is the preferred treatment strategy for locally advanced rectal cancer. However, complete tumor regression is observed in a significant proporti...

    Authors: Camila Miranda Lopes-Ramos, Angelita Habr-Gama, Bruna de Souza Quevedo, Natália Mariana Felício, Fabiana Bettoni, Fernanda Christtanini Koyama, Paula Fontes Asprino, Pedro Alexandre Galante, Joaquim Gama-Rodrigues, Anamaria Aranha Camargo, Rodrigo Oliva Perez and Raphael Bessa Parmigiani

    Citation: BMC Medical Genomics 2014 7:68

    Content type: Research article

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  9. In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic p...

    Authors: Lingling Shi, Bingxiao Li, Yonglan Huang, Xueying Ling, Tianyun Liu, Gholson J Lyon, Anding Xu and Kai Wang

    Citation: BMC Medical Genomics 2014 7:66

    Content type: Research article

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  10. We have identified candidate protein and microRNA (miRNA) biomarkers for dyspnea by studying serum, lavage fluid, and urine from military personnel who reported serious respiratory symptoms after they were dep...

    Authors: Joseph N Brown, Heather M Brewer, Carrie D Nicora, Karl K Weitz, Michael J Morris, Andrew J Skabelund, Joshua N Adkins, Richard D Smith, Ji-Hoon Cho and Richard Gelinas

    Citation: BMC Medical Genomics 2014 7:58

    Content type: Research article

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  11. Prediction models for old-age mortality have generally relied upon conventional markers such as plasma-based factors and biophysiological characteristics. However, it is unknown whether the existing markers ar...

    Authors: Juulia Jylhävä, Jani Raitanen, Saara Marttila, Antti Hervonen, Marja Jylhä and Mikko Hurme

    Citation: BMC Medical Genomics 2014 7:54

    Content type: Research article

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  12. MiRNA expression profiling is being actively investigated as a clinical biomarker and diagnostic tool to detect multiple cancer types and stages as well as other complex diseases. Initial investigations, howev...

    Authors: Renata A Rawlings-Goss, Michael C Campbell and Sarah A Tishkoff

    Citation: BMC Medical Genomics 2014 7:53

    Content type: Research article

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  13. Good prognostic tools for predicting disease progression in early stage prostate cancer (PCa) are still missing. Detection of molecular subtypes, for instance by using microarray gene technology, can give new ...

    Authors: Morten Beck Rye, Helena Bertilsson, Finn Drabløs, Anders Angelsen, Tone F Bathen and May-Britt Tessem

    Citation: BMC Medical Genomics 2014 7:50

    Content type: Research article

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  15. Recent advances in time-lapse monitoring in IVF treatment have provided new morphokinetic markers for embryonic competence. However, there is still very limited information about the relationship between morph...

    Authors: Zhihong Yang, John Zhang, Shala A Salem, Xiaohong Liu, Yanping Kuang, Rifaat D Salem and Jiaen Liu

    Citation: BMC Medical Genomics 2014 7:38

    Content type: Research article

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  16. Invasion of tumor cells into adjacent brain parenchyma is a major cause of treatment failure in glioblastoma. Furthermore, invasive tumors are shown to have a different genomic composition and metabolic abnorm...

    Authors: Rivka R Colen, Mark Vangel, Jixin Wang, David A Gutman, Scott N Hwang, Max Wintermark, Rajan Jain, Manal Jilwan-Nicolas, James Y Chen, Prashant Raghavan, Chad A Holder, Daniel Rubin, Eric Huang, Justin Kirby, John Freymann, Carl C Jaffe…

    Citation: BMC Medical Genomics 2014 7:30

    Content type: Research article

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  17. Widespread adoption of genomic technologies in the management of heterogeneous indications, including Multiple Myeloma, has been hindered by concern over variation between published gene expression signatures,...

    Authors: Ryan van Laar, Rachel Flinchum, Nathan Brown, Joseph Ramsey, Sam Riccitelli, Christoph Heuck, Bart Barlogie and John D Shaughnessy Jr

    Citation: BMC Medical Genomics 2014 7:25

    Content type: Technical advance

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  18. Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studie...

    Authors: Lixian Chang, Weiping Yuan, Huimin Zeng, Quanquan Zhou, Wei Wei, Jianfeng Zhou, Miaomiao Li, Xiaomin Wang, Mingjiang Xu, Fengchun Yang, Yungui Yang, Tao Cheng and Xiaofan Zhu

    Citation: BMC Medical Genomics 2014 7:24

    Content type: Research article

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  19. Clinical specimens undergoing diagnostic molecular pathology testing are fixed in formalin due to the necessity for detailed morphological assessment. However, formalin fixation can cause major issues with mol...

    Authors: Stephen Q Wong, Jason Li, Angela Y-C Tan, Ravikiran Vedururu, Jia-Min B Pang, Hongdo Do, Jason Ellul, Ken Doig, Anthony Bell, Grant A McArthur, Stephen B Fox, David M Thomas, Andrew Fellowes, John P Parisot and Alexander Dobrovic

    Citation: BMC Medical Genomics 2014 7:23

    Content type: Research article

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  20. Immediately after renal transplantation, patients experience rapid and significant improvement of their clinical conditions and undergo considerable systemic and cellular modifications. However, some patients ...

    Authors: Gianluigi Zaza, Federica Rascio, Paola Pontrelli, Simona Granata, Patrizia Stifanelli, Matteo Accetturo, Nicola Ancona, Loreto Gesualdo, Antonio Lupo and Giuseppe Grandaliano

    Citation: BMC Medical Genomics 2014 7:14

    Content type: Research article

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  21. Non-invasive prenatal testing of trisomy 21 (T21) is being actively investigated using fetal-specific epigenetic markers (EPs) that are present in maternal plasma. Recently, 12 EPs on chromosome 21 were identi...

    Authors: Ji Hyae Lim, Da Eun Lee, So Yeon Park, Do Jin Kim, Hyun Kyong Ahn, You Jung Han, Moon Young Kim and Hyun Mee Ryu

    Citation: BMC Medical Genomics 2014 7:1

    Content type: Research article

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  22. Myocardial infarction (MI) often results in left ventricular (LV) remodeling followed by heart failure (HF). It is of great clinical importance to understand the molecular mechanisms that trigger transition fr...

    Authors: Dorota Tulacz, Urszula Mackiewicz, Michal Maczewski, Agata Maciejak, Monika Gora and Beata Burzynska

    Citation: BMC Medical Genomics 2013 6:49

    Content type: Research article

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  23. Resilience or the ability of our body to cope with daily-life challenges has been proposed as a new definition of health, with restoration of homeostasis as target resultant of various physiological stress res...

    Authors: Suzan Wopereis, Danielle Wolvers, Marjan van Erk, Michiel Gribnau, Bas Kremer, Ferdi A van Dorsten, Esther Boelsma, Ursula Garczarek, Nicole Cnubben, Leon Frenken, Paul van der Logt, Henk FJ Hendriks, Ruud Albers, John van Duynhoven, Ben van Ommen and Doris M Jacobs

    Citation: BMC Medical Genomics 2013 6:44

    Content type: Research article

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  24. Tumour growth in colorectal cancer and other solid cancers is frequently supported by activating mutations in the epidermal growth factor receptor (EGFR) signaling pathway (Patholog Res Int 2011:932932, 2011)....

    Authors: Samuel Wormald, Liz Milla and Liam O’Connor

    Citation: BMC Medical Genomics 2013 6:43

    Content type: Research article

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  25. Bladder cancer exists as several distinct subtypes, including urothelial carcinoma (UCa), squamous cell carcinoma (SCCa), adenocarcinoma and small cell carcinoma. These entities, despite showing distinct morph...

    Authors: Donna E Hansel, Zhongfa Zhang, David Petillo and Bin T Teh

    Citation: BMC Medical Genomics 2013 6:42

    Content type: Research article

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  26. The majority of gastric cancer cases are believed to be caused by chronic infection with the bacterium Helicobacter pylori, and atrophic corpus gastritis is a predisposing condition to gastric cancer development....

    Authors: Intawat Nookaew, Kaisa Thorell, Kuntal Worah, Shugui Wang, Martin Lloyd Hibberd, Henrik Sjövall, Sven Pettersson, Jens Nielsen and Samuel B Lundin

    Citation: BMC Medical Genomics 2013 6:41

    Content type: Research article

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  27. Unexpected cholestasis substantially contributes to drug failure in clinical trials. Current models used for safety assessment in drug development do not accurately predict cholestasis in humans. Therefore, it...

    Authors: Ewa Szalowska, Geert Stoopen, Maria J Groot, Peter JM Hendriksen and Ad ACM Peijnenburg

    Citation: BMC Medical Genomics 2013 6:39

    Content type: Research article

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  28. Differential diagnosis between malignant follicular thyroid cancer (FTC) and benign follicular thyroid adenoma (FTA) is a great challenge for even an experienced pathologist and requires special effort. Molecu...

    Authors: Aleksandra Pfeifer, Bartosz Wojtas, Malgorzata Oczko-Wojciechowska, Aleksandra Kukulska, Agnieszka Czarniecka, Markus Eszlinger, Thomas Musholt, Tomasz Stokowy, Michal Swierniak, Ewa Stobiecka, Dagmara Rusinek, Tomasz Tyszkiewicz, Monika Kowal, Michal Jarzab, Steffen Hauptmann, Dariusz Lange…

    Citation: BMC Medical Genomics 2013 6:38

    Content type: Research article

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  29. Pancreatic cancer is a highly lethal cancer with limited diagnostic and therapeutic modalities.

    Authors: Jinping Jia, Hemang Parikh, Wenming Xiao, Jason W Hoskins, Holger Pflicke, Xuelu Liu, Irene Collins, Weiyin Zhou, Zhaoming Wang, John Powell, Snorri S Thorgeirsson, Udo Rudloff, Gloria M Petersen and Laufey T Amundadottir

    Citation: BMC Medical Genomics 2013 6:33

    Content type: Research article

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  30. Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved des...

    Authors: Darrell L Dinwiddie, Sarah E Soden, Carol J Saunders, Neil A Miller, Emily G Farrow, Laurie D Smith and Stephen F Kingsmore

    Citation: BMC Medical Genomics 2013 6:32

    Content type: Case report

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  31. Small nucleolar RNAs (snoRNAs) and small Cajal body-specific RNAs are non-coding RNAs involved in the maturation of other RNA molecules. Alterations of sno/scaRNA expression may play a role in cancerogenesis. ...

    Authors: Domenica Ronchetti, Laura Mosca, Giovanna Cutrona, Giacomo Tuana, Massimo Gentile, Sonia Fabris, Luca Agnelli, Gabriella Ciceri, Serena Matis, Carlotta Massucco, Monica Colombo, Daniele Reverberi, Anna Grazia Recchia, Sabrina Bossio, Massimo Negrini, Pierfrancesco Tassone…

    Citation: BMC Medical Genomics 2013 6:27

    Content type: Research article

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  32. It is suspected that early gastric carcinoma (GC) is a dormant variant that rarely progresses to advanced GC. We demonstrated that the dormant and aggressive variants of tubular adenocarcinomas (TUBs) of the s...

    Authors: Ayano Sonoda, Ken-ichi Mukaisho, Takahisa Nakayama, Vo Thi Ngoc Diem, Takanori Hattori, Akira Andoh, Yoshihide Fujiyama and Hiroyuki Sugihara

    Citation: BMC Medical Genomics 2013 6:25

    Content type: Research article

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  33. In order to identify miRNAs expression profiling from genome-wide screen for diagnosis of acute myocardial infarction (AMI) and angina pectoris (AP), we investigated the altered profile of serum microRNAs in A...

    Authors: Chunjian Li, Zhijuan Fang, Ting Jiang, Qiu Zhang, Chao Liu, Chenyu Zhang and Yang Xiang

    Citation: BMC Medical Genomics 2013 6:16

    Content type: Research article

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  35. Colorectal cancer (CRC) is a heterogeneous and biologically poorly understood disease. To tailor CRC treatment, it is essential to first model this heterogeneity by defining subtypes of patients with homogeneo...

    Authors: Andreas Schlicker, Garry Beran, Christine M Chresta, Gael McWalter, Alison Pritchard, Susie Weston, Sarah Runswick, Sara Davenport, Kerry Heathcote, Denis Alferez Castro, George Orphanides, Tim French and Lodewyk FA Wessels

    Citation: BMC Medical Genomics 2012 5:66

    Content type: Research article

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  36. Chronic obstructive pulmonary disease (COPD) is influenced by both environmental and genetic factors. Few gene studies of the Chinese population have focused on COPD. We investigated candidate genes associated...

    Authors: Yi Guo, Yi Gong, Chunming Pan, Yanrong Qian, Guochao Shi, Qijian Cheng, Qingyun Li, Lei Ren, Qiuling Weng, Yi Chen, Ting Cheng, Liang Fan, Zhihong Jiang and Huanying Wan

    Citation: BMC Medical Genomics 2012 5:64

    Content type: Research article

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  37. Smoking is the leading cause of preventable death worldwide and has been shown to increase the risk of multiple diseases including coronary artery disease (CAD). We sought to identify genes whose levels of exp...

    Authors: Philip Beineke, Karen Fitch, Heng Tao, Michael R Elashoff, Steven Rosenberg, William E Kraus and James A Wingrove

    Citation: BMC Medical Genomics 2012 5:58

    Content type: Research article

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  38. Despite entering complete remission after primary treatment, a substantial proportion of patients with early stage breast cancer will develop metastases. Prediction of such an outcome remains challenging despi...

    Authors: Françoise Bonnet, Mickael Guedj, Natalie Jones, Sana Sfar, Véronique Brouste, Nabila Elarouci, Guillaume Banneau, Béatrice Orsetti, Charlotte Primois, Christine Tunon de Lara, Marc Debled, Isabelle de Mascarel, Charles Theillet, Nicolas Sévenet, Aurélien de Reynies, Gaëtan MacGrogan…

    Citation: BMC Medical Genomics 2012 5:54

    Content type: Research article

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  39. Leukocyte infiltration plays an important role in the pathogenesis and progression of myositis, and is highly associated with disease severity. Currently, there is a lack of: efficacious therapies for myositis...

    Authors: Wei Zhu, Katie Streicher, Nan Shen, Brandon W Higgs, Chris Morehouse, Lydia Greenlees, Anthony A Amato, Koustubh Ranade, Laura Richman, David Fiorentino, Bahija Jallal, Steven A Greenberg and Yihong Yao

    Citation: BMC Medical Genomics 2012 5:53

    Content type: Research article

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  40. The purpose of this study is to assess the predictive accuracy of a multi-gene predictor of response to docetaxel, 5-fluorouracil, epirubicin and cyclophosphamide combination chemotherapy on gene expression da...

    Authors: Kui Shen, Yuan Qi, Nan Song, Chunqiao Tian, Shara D Rice, Michael J Gabrin, Stacey L Brower, William Fraser Symmans, Joyce A O’Shaughnessy, Frankie A Holmes, Lina Asmar and Lajos Pusztai

    Citation: BMC Medical Genomics 2012 5:51

    Content type: Research article

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  41. Aortopathies are a group of disorders characterized by aneurysms, dilation, and tortuosity of the aorta. Because of the phenotypic overlap and genetic heterogeneity of diseases featuring aortopathy, molecular ...

    Authors: Whitney L Wooderchak-Donahue, Brendan O’Fallon, Larissa V Furtado, Jacob D Durtschi, Parker Plant, Perry G Ridge, Alan F Rope, Angela T Yetman and Pinar Bayrak-Toydemir

    Citation: BMC Medical Genomics 2012 5:50

    Content type: Research article

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  42. Inattentiveness, impulsivity and hyperactivity are the primary behaviors associated with attention-deficit hyperactivity disorder (ADHD). Previous studies showed that peripheral blood gene expression signature...

    Authors: Yingfang Tian, Boryana Stamova, Bradley P Ander, Glen C Jickling, Joan R Gunther, Blythe A Corbett, Netty GP Bos-Veneman, Pieter J Hoekstra, Julie B Schweitzer and Frank R Sharp

    Citation: BMC Medical Genomics 2012 5:49

    Content type: Research article

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  43. Many methodologies have been used in research to identify the “intrinsic” subtypes of breast cancer commonly known as Luminal A, Luminal B, HER2-Enriched (HER2-E) and Basal-like. The PAM50 gene set is often us...

    Authors: Roy RL Bastien, Álvaro Rodríguez-Lescure, Mark TW Ebbert, Aleix Prat, Blanca Munárriz, Leslie Rowe, Patricia Miller, Manuel Ruiz-Borrego, Daniel Anderson, Bradley Lyons, Isabel Álvarez, Tracy Dowell, David Wall, Miguel Ángel Seguí, Lee Barley, Kenneth M Boucher…

    Citation: BMC Medical Genomics 2012 5:44

    Content type: Research article

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  44. Aberrant DNA methylation leads to loss of heterozygosity (LOH) or loss of imprinting (LOI) as the first hit during human carcinogenesis. Recently we developed a new high-throughput, high-resolution DNA methyla...

    Authors: Hitoshi Hiura, Hiroaki Okae, Hisato Kobayash, Naoko Miyauchi, Fumi Sato, Akiko Sato, Fumihiko Suzuki, Satoru Nagase, Junichi Sugawara, Kunihiko Nakai, Nobuo Yaegashi and Takahiro Arima

    Citation: BMC Medical Genomics 2012 5:8

    Content type: Research article

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  45. Gene expression profiling has shown its ability to identify with high accuracy low cytogenetic risk acute myeloid leukemia such as acute promyelocytic leukemia and leukemias with t(8;21) or inv(16). The aim of...

    Authors: Diane Raingeard de la Blétière, Odile Blanchet, Pascale Cornillet-Lefèbvre, Anne Coutolleau, Laurence Baranger, Franck Geneviève, Isabelle Luquet, Mathilde Hunault-Berger, Annaelle Beucher, Aline Schmidt-Tanguy, Marc Zandecki, Yves Delneste, Norbert Ifrah and Philippe Guardiola

    Citation: BMC Medical Genomics 2012 5:6

    Content type: Research article

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  46. Liver fibrosis is caused by chemicals or viral infection. The progression of liver fibrosis results in hepatocellular carcinogenesis in later stages. Recent studies have revealed the importance of DNA hypermet...

    Authors: Yoko Komatsu, Tsuyoshi Waku, Naoya Iwasaki, Wakana Ono, Chie Yamaguchi and Junn Yanagisawa

    Citation: BMC Medical Genomics 2012 5:5

    Content type: Research article

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  49. Prediction of left ventricular (LV) remodeling after acute myocardial infarction (MI) is clinically important and would benefit from the discovery of new biomarkers.

    Authors: Yvan Devaux, Melanie Bousquenaud, Sophie Rodius, Pierre-Yves Marie, Fatiha Maskali, Lu Zhang, Francisco Azuaje and Daniel R Wagner

    Citation: BMC Medical Genomics 2011 4:83

    Content type: Research article

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  50. Identification of patients who likely will or will not benefit from cytotoxic chemotherapy through the use of biomarkers could greatly improve clinical management by better defining appropriate treatment optio...

    Authors: Chang Hee Kim, Hark K Kim, R Luke Rettig, Joseph Kim, Eunbyul T Lee, Olga Aprelikova, Il J Choi, David J Munroe and Jeffrey E Green

    Citation: BMC Medical Genomics 2011 4:79

    Content type: Research article

    Published on:

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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

BMC Medical Genomics

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