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RNA genetic blood test early cancer detection

Fernando Bellido, Nadine Sowada, Pilar Mur, Conxi Lázaro, Tirso Pons, Rafael Valdés-Mas, Marta Pineda, Gemma Aiza, Silvia Iglesias, José Luís Soto, Miguel Urioste, Trinidad Caldés, Milagros Balbín, Pilar Blay, Daniel Rueda, Mercedes Durán, Alfonso Valencia, Victor Moreno, Joan Brunet, Ignacio Blanco, Matilde Navarro, George A Calin, Guntram Borck, Xose S Puente, Gabriel Capellá, Laura Valle
BACKGROUND & AIMS: Although there is a genetic predisposition to colorectal cancer (CRC), few of the genes that affect risk have been identified. We performed whole-exome sequence analysis of individuals in a high-risk family without mutations in genes previously associated with CRC risk to identify variants associated with inherited CRC. METHODS: We collected blood samples from 3 relatives with CRC in Spain (65, 62, and 40 years old at diagnosis) and performed whole-exome sequence analyses...
January 2018: Gastroenterology
M N Peshkov, E V Generozov, E S Kostryukova
The implementation of biochemical laboratory tests in oncology practice increased exponentially during last decades and continues to be in progress nowadays. The application of modern molecular genetic technologies permits using diagnostic systems with greater diagnostic sensitivity and specificity. The new tests are actively implemented permitting to diagnose physical presence of tumor systemic manifestations of malignant neoplasm (cachexia, pyrexia), paraneoplastic syndromes and also to detect tumor markers...
March 2016: Klinicheskaia Laboratornaia Diagnostika
L Sorber, K Zwaenepoel, V Deschoolmeester, P E Y Van Schil, J Van Meerbeeck, F Lardon, C Rolfo, P Pauwels
Lung cancer is the predominant cause of cancer-related mortality in the world. The majority of patients present with locally advanced or metastatic non-small-cell lung cancer (NSCLC). Treatment for NSCLC is evolving from the use of cytotoxic chemotherapy to personalized treatment based on molecular alterations. Unfortunately, the quality of the available tumor biopsy and/or cytology material is not always adequate to perform the necessary molecular testing, which has prompted the search for alternatives. This review examines the use of circulating cell-free nucleic acids (cfNA), consisting of both circulating cell-free (tumoral) DNA (cfDNA-ctDNA) and RNA (cfRNA), as a liquid biopsy in lung cancer...
May 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
Andrea Iannone, Giuseppe Losurdo, Maria Pricci, Bruna Girardi, Antonio Massaro, Mariabeatrice Principi, Michele Barone, Enzo Ierardi, Alfredo Di Leo
PURPOSE: We report an update of current methods for colorectal cancer (CRC) screening based on fecal sample analysis. METHODS: A systematic review of the literature was performed in MEDLINE, EMBASE, and Science Direct electronic databases. RESULTS: Blood in the stools is the first and most used strategy. Fecal occult blood test (FOBT) and fecal immunochemical test (FIT) are the main methods. Both are economic, easy to perform with high specificity, and low sensitivity...
June 2016: Journal of Gastrointestinal Cancer
Gemma Binefa, Francisco Rodríguez-Moranta, Alex Teule, Manuel Medina-Hayas
Colorectal cancer (CRC) is a very heterogeneous disease that is caused by the interaction of genetic and environmental factors. CRC develops through a gradual accumulation of genetic and epigenetic changes, leading to the transformation of normal colonic mucosa into invasive cancer. CRC is one of the most prevalent and incident cancers worldwide, as well as one of the most deadly. Approximately 1235108 people are diagnosed annually with CRC, and 609051 die from CRC annually. The World Health Organization estimates an increase of 77% in the number of newly diagnosed cases of CRC and an increase of 80% in deaths from CRC by 2030...
June 14, 2014: World Journal of Gastroenterology: WJG
Farid E Ahmed
Early screening for colon cancer (CC) allows for early stage diagnosis of the malignancy and potentially reduces disease mortality as the cancer is most likely curable at its earliest stages. Early detection would be desirable if accurate, practical and cost-effective diagnostic measures for this cancer were available. Mortality and morbidity from CC represent a major health problem involving a malignant disease that is theoretically preventable through screening. Current screening methods (e.g., the convenient and inexpensive immunological fecal occult blood test, FOBTi, obtained from patients' medical records) either lack sensitivity and require dietary restriction, which impedes compliance and use; are costly (e...
April 2014: Expert Review of Anticancer Therapy
Adrian T Billeter, Rebecca E Barnett, Devin Druen, Hiram C Polk, Victor H van Berkel
Lung cancer is the most lethal cancer due to late detection in advanced stages; early diagnosis of lung cancer allows surgical treatment and improves the outcome. The prevalence of gastroesophageal reflux-related adenocarcinomas of the esophagus is increasing; repetitive surveillance endoscopies are necessary to detect development of cancer. A blood-based biomarker would simplify the diagnosis and treatment of both diseases. MicroRNAs (miRNAs) are short RNA strands that interfere with protein production. miRNAs play pivotal roles in cell homeostasis, and dysregulation of miRNAs can lead to the development of cancer...
2012: Seminars in Thoracic and Cardiovascular Surgery
Linda J W Bosch, Beatriz Carvalho, Remond J A Fijneman, Connie R Jimenez, Herbert M Pinedo, Manon van Engeland, Gerrit A Meijer
Detecting and removing high-risk adenomas and early colorectal cancer (CRC) can reduce mortality of this disease. The noninvasive fecal occult blood test (FOBT; guaiac-based or immunochemical) is widely used in screening programs and although effective, it leaves room for improvement in terms of test accuracy. Molecular tests are expected to be more sensitive, specific and informative than current detection tests, and are promising future tools for CRC screening. This review provides an overview of the performances of DNA, RNA, and protein markers for CRC detection in stool and blood...
March 1, 2011: Clinical Colorectal Cancer
Yuan Wan, Young-tae Kim, Na Li, Steve K Cho, Robert Bachoo, Andrew D Ellington, Samir M Iqbal
Exposing rare but highly malignant tumor cells that migrate from the primary tumor mass into adjacent tissue(s) or circulate in the bloodstream is critical for early detection and effective intervention(s). Here, we report on an aptamer-based strategy directed against epidermal growth factor receptor (EGFR), the most common oncogene in glioblastoma (GBM), to detect these deadly tumor cells. GBMs are characterized by diffuse infiltration into normal brain regions, and the inability to detect GBM cells renders the disease surgically incurable with a median survival of just 14...
November 15, 2010: Cancer Research
Michèl Schummer, David Beatty, Nicole Urban
Mammography is a powerful screening tool for early detection of breast cancer, but it has limitations in terms of both specificity and sensitivity. Imaging tools such as MRI that complement mammography are too costly to serve as first-line screens. Recently, progress has been made on blood markers, particularly microRNAs and proteins. There are new methods for protein marker discovery directly in blood, but they are limited in the number of patients that can be examined. An alternative is to discover markers as transcripts in tissues, followed by development of blood protein tests for those that perform best...
October 2010: Annals of the New York Academy of Sciences
Mattia Lauriola, Giampaolo Ugolini, Giancarlo Rosati, Simone Zanotti, Isacco Montroni, Alessio Manaresi, Davide Zattoni, Stefano Rivetti, Gabriella Mattei, Domenico Coppola, Pierluigi Strippoli, Mario Taffurelli, Rossella Solmi
Evidence from the literature widely supports the efficacy of screening for colorectal cancer (CRC) in reducing mortality. A blood-based assay, potentially, represents a more accessible early detection tool for the identification of circulating tumour cells originating from a primary tumour site in the body. The present work aimed at identifying a set of specific mRNAs expressed in colon tissue but not in blood cells. These mRNAs may represent useful markers for early detection of circulating colon cancer cells by a simple, qualitative RT-PCR assay, following RNA extraction from peripheral blood samples...
August 2010: International Journal of Oncology
Anne M Friel, Claire Corcoran, John Crown, Lorraine O'Driscoll
Early detection of cancer is vital to improved overall survival rates. At present, evidence is accumulating for the clinical value of detecting occult tumor cells in peripheral blood, plasma, and serum specimens from cancer patients. Both molecular and cellular approaches, which differ in sensitivity and specificity, have been used for such means. Circulating tumor cells and extracellular nucleic acids have been detected within blood, plasma, and sera of cancer patients. As the presence of malignant tumors are clinically determined and/or confirmed upon biopsy procurement-which in itself may have detrimental effects in terms of stimulating cancer progression/metastases-minimally invasive methods would be highly advantageous to the diagnosis and prognosis of breast cancer and the subsequent tailoring of targeted treatments for individuals, if reliable panels of biomarkers suitable for such an approach exist...
October 2010: Breast Cancer Research and Treatment
V V Vlassov, P P Laktionov, E Y Rykova
Since the association of circulating DNA level changes with tumor growth was discovered many attempts have been made to develop the sensitive and robust blood-based tests for early tumor diagnostics. Both genomic as well as mitochondrial DNA quantification in the circulation have been extensively evaluated as a diagnostic and prognostic tool to monitor cancer therapy. Cell-free DNA bearing the same genetic and epigenetic changes as the tumor tissues were shown to be detectable in plasma / serum of cancer patients indicating the principal possibility to create the minimally invasive diagnostic tests based on tumor-specific DNA markers...
March 2010: Current Molecular Medicine
Mieke Delvaeye, Astrid De Vriese, Femke Zwerts, Inge Betz, Michael Moons, Monica Autiero, Edward M Conway
BACKGROUND: Normal growth and development of organisms requires maintenance of a dynamic balance between systems that promote cell survival and those that induce apoptosis. The molecular mechanisms that regulate these processes remain poorly understood, and thus further in vivo study is required. Survivin is a member of the inhibitor of apoptosis protein (IAP) family, that uniquely also promotes mitosis and cell proliferation. Postnatally, survivin is hardly detected in most tissues, but is upregulated in all cancers, and as such, is a potential therapeutic target...
2009: BMC Developmental Biology
Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J Zhang, Srdan Verstovsek, Maher Albitar
Here, we describe the JAK2 mutation profile in a series of approximately 20,000 blood samples from patients with clinically suspected myeloproliferative neoplasias. Using a sensitive reverse transcription-PCR and direct sequencing approach on RNA rather than DNA, we detected JAK2 mutations in exons 12-15 in approximately 20% of these patients. We identified new mutations in addition to the known V617F and exon 12 mutations, which were the most common. Most of the novel mutations are located in the pseudokinase domain and therefore are expected to relieve the autoinhibitory function of this domain on JAK2 kinase activity...
January 2009: Journal of Molecular Diagnostics: JMD
Vitor M Faca, Kenneth S Song, Hong Wang, Qing Zhang, Alexei L Krasnoselsky, Lisa F Newcomb, Ruben R Plentz, Sushma Gurumurthy, Mark S Redston, Sharon J Pitteri, Sandra R Pereira-Faca, Renee C Ireton, Hiroyuki Katayama, Veronika Glukhova, Douglas Phanstiel, Dean E Brenner, Michelle A Anderson, David Misek, Nathalie Scholler, Nicole D Urban, Matt J Barnett, Cim Edelstein, Gary E Goodman, Mark D Thornquist, Martin W McIntosh, Ronald A DePinho, Nabeel Bardeesy, Samir M Hanash
BACKGROUND: The complexity and heterogeneity of the human plasma proteome have presented significant challenges in the identification of protein changes associated with tumor development. Refined genetically engineered mouse (GEM) models of human cancer have been shown to faithfully recapitulate the molecular, biological, and clinical features of human disease. Here, we sought to exploit the merits of a well-characterized GEM model of pancreatic cancer to determine whether proteomics technologies allow identification of protein changes associated with tumor development and whether such changes are relevant to human pancreatic cancer...
June 10, 2008: PLoS Medicine
Sabrina Hundt, Ulrike Haug, Hermann Brenner
BACKGROUND: Despite different available methods for colorectal cancer (CRC) screening and their proven benefits, morbidity, and mortality of this malignancy are still high, partly due to low compliance with screening. Minimally invasive tests based on the analysis of blood specimens may overcome this problem. The purpose of this review was to give an overview of published studies on blood markers aimed at the early detection of CRC and to summarize their performance characteristics. METHOD: The PUBMED database was searched for relevant studies published until June 2006...
October 2007: Cancer Epidemiology, Biomarkers & Prevention
Marie Trkova, Kamila Prochazkova, Vera Krutilkova, David Sumerauer, Zdenek Sedlacek
BACKGROUND: A decrease in the age at cancer onset and increase in cancer incidence in successive generations in Li-Fraumeni syndrome (LFS) families with germline TP53 mutations have been previously described. In the current study a possible relation was analyzed between telomere length and cancer onset in TP53 mutation carriers. METHODS: Telomere length was measured using real-time quantitative polymerase chain reaction (PCR) in 20 carriers of germline TP53 mutations and in 83 unrelated healthy individuals...
August 1, 2007: Cancer
Ingo Mecklenburg, Dorothea Weckermann, Alfred Zippelius, Alexandra Schoberth, Stephanie Petersen, Nadja Prang, Gert Riethmüller, Peter Kufer
INTRODUCTION: Distant metastases of solid tumors are usually associated with fatal outcome. Disseminated cancer cells are considered early indicators of metastasis. Their sensitive detection and quantification would be a valuable tool for staging of disease and as guidance for therapeutic decisions. EXPERIMENTAL DESIGN: We established a highly sensitive and quantitative multimarker real-time RT-PCR assay for amplification of cancer-related genes MAGE-A1, -A2, -A3/6, -A4, -A10 and -A12 using SYBR green I to detect one single tumor cell in 2 mL of blood or bone marrow...
June 30, 2007: Journal of Immunological Methods
Eirini Papadopoulou, Elias Davilas, Vasilios Sotiriou, Eleftherios Georgakopoulos, Stavroula Georgakopoulou, Alexander Koliopanos, Filipos Aggelakis, Konstantinos Dardoufas, Niki J Agnanti, Irini Karydas, Georgios Nasioulas
In this study, we examined several molecular markers in prostate and breast cancer patients and in normal individuals. The markers tested were: variations in the quantity of plasma DNA, glutathione-S-transferase P1 gene (GSTP1), Ras association domain family 1A (RASSF1A), and ataxia telangiectasia mutated (ATM) methylation status in plasma, carcinoembryonic antigen (CEA) and prostate-specific membrane antigen (PSMA) mRNA in peripheral blood mononuclear cells (PBMC) and plasma samples from prostate cancer patients...
September 2006: Annals of the New York Academy of Sciences
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