journal
MENU ▼
Read by QxMD icon Read
search

Molecular Diagnosis & Therapy

journal
https://www.readbyqxmd.com/read/28405803/mir-15a-5p-a-novel-prognostic-biomarker-predicting-recurrent-colorectal-adenocarcinoma
#1
Christos K Kontos, Panagiotis Tsiakanikas, Margaritis Avgeris, Iordanis N Papadopoulos, Andreas Scorilas
INTRODUCTION: Colorectal cancer is one of the most common gastrointestinal diseases and the second leading cause of cancer-associated deaths among adults. miR-15a-5p is a post-transcriptional regulator of the proto-oncogene MYB, a transcription factor essential for prolonged cancer cell proliferation and survival. In the current study, we assessed the potential diagnostic and prognostic utility of miR-15a-5p expression in colorectal adenocarcinoma. METHODS: To accomplish this goal, total RNA was extracted from 182 colorectal adenocarcinoma specimens and 86 non-cancerous colorectal mucosae...
April 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28374122/the-role-of-pharmacogenetics-in-chronic-plaque-psoriasis-update-of-the-literature
#2
REVIEW
Marina Talamonti, Simone D'Adamio, Luca Bianchi, Marco Galluzzo
Psoriasis is a chronic inflammatory disease triggered by both genetic and environmental factors. Systemic and biologic therapies used to treat moderate-to-severe psoriasis show significant variability in efficacy, are associated with various degrees of toxicity, and, for biologic therapies, are expensive. There is a great need for non-invasive biomarkers to predict treatment outcomes of these therapies and to individualize care for patients with psoriasis. This article reviews currently recognized pharmacogenetic targets related to the treatment of chronic plaque psoriasis, in particular to biologic therapies...
April 3, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28357677/identification-of-a-novel-somatic-mutation-leading-to-allele-dropout-for-egfr-l858r-genotyping-in-non-small-cell-lung-cancer
#3
Helio A Costa, Joel W Neal, Carlos D Bustamante, James L Zehnder
OBJECTIVE: While PCR-based genotyping methods abound in molecular testing for lung cancer therapy, these approaches may not provide the robust sensitivity to detect accurate genotypes in a variable cancer genomic background. METHODS: Here, we describe a study of a clinical tumor specimen containing a novel somatic single nucleotide variant that caused allele drop-out in EGFR L858R genotyping, resulting in a false-negative interpretation and impacting patient clinical management...
March 29, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28337711/circulating-tumor-dna-for-mutation-detection-and-identification-of-mechanisms-of-resistance-in-non-small-cell-lung-cancer
#4
REVIEW
Kay T Yeung, Soham More, Brian Woodward, Victor Velculescu, Hatim Husain
Targeted therapies have changed the treatment landscape of non-small cell lung cancer over the past decade. Analyses of cell free circulating tumor DNA (ctDNA) provide a non-invasive and robust approach for cancer diagnosis and prognosis, real-time monitoring of treatment response, and the identification of appropriate therapeutic targets based on the detection of tumor genetic aberrations. Recent improvements in the sensitivity, specificity, and feasibility of ctDNA detection assays allow the possibility for implementation into clinical practice...
March 24, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28299719/the-non-coding-transcriptome-of-prostate-cancer-implications-for-clinical-practice
#5
REVIEW
Irene V Bijnsdorp, Martin E van Royen, Gerald W Verhaegh, Elena S Martens-Uzunova
Prostate cancer (PCa) is the most common type of cancer and the second leading cause of cancer-related death in men. Despite extensive research, the molecular mechanisms underlying PCa initiation and progression remain unclear, and there is increasing need of better biomarkers that can distinguish indolent from aggressive and life-threatening disease. With the advent of advanced genomic technologies in the last decade, it became apparent that the human genome encodes tens of thousands non-protein-coding RNAs (ncRNAs) with yet to be discovered function...
March 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28290094/evaluating-the-calling-performance-of-a-rare-disease-ngs-panel-for-single-nucleotide-and-copy-number-variants
#6
P Cacheiro, A Ordóñez-Ugalde, B Quintáns, S Piñeiro-Hermida, J Amigo, M García-Murias, S I Pascual-Pascual, F Grandas, J Arpa, A Carracedo, M J Sobrido
INTRODUCTION: Variant detection protocols for clinical next-generation sequencing (NGS) need application-specific optimization. Our aim was to analyze the performance of single nucleotide variant (SNV) and copy number (CNV) detection programs on an NGS panel for a rare disease. METHODS: Thirty genes were sequenced in 83 patients with hereditary spastic paraplegia. The variant calls obtained with LifeScope, GATK UnifiedGenotyper and GATK HaplotypeCaller were compared with Sanger sequencing...
March 13, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28271451/the-utility-of-biomarkers-in-osteoporosis-management
#7
REVIEW
Patrick Garnero
The measurement of bone turnover markers is useful for the clinical investigation of patients with osteoporosis. Among the available biochemical markers, the measurements of serum procollagen type I N-terminal propeptide (PINP) and the crosslinked C-terminal telopeptide (serum CTX) have been recommended as reference markers of bone formation and bone resorption, respectively. The important sources of preanalytical and analytical variability have been identified for both markers, and precise measurement can now be obtained...
March 7, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28266003/erratum-to-high-resolution-melting-analysis-is-very-useful-to-identify%C3%A2-brca1%C3%A2-c-4964_4982del19-rs80359876-founder-calabrian-pathogenic-variant-on-peripheral-blood-and-buccal-swab-dna
#8
Angelo Minucci, Maria De Bonis, Elisa De Paolis, Leonarda Gentile, Concetta Santonocito, Paola Concolino, Flavio Mignone, Ettore Capoluongo
No abstract text is available yet for this article.
March 7, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28247183/the-challenges-of-precision-medicine-in-copd
#9
Mario Cazzola, Luigino Calzetta, Paola Rogliani, Maria Gabriella Matera
Pheno-/endotyping chronic obstructive pulmonary disease (COPD) is really important because it provides patients with precise and personalized medicine. The central concept of precision medicine is to take individual variability into account when making management decisions. Precision medicine should ensure that patients get the right treatment at the right dose at the right time, with minimum harmful consequences and maximum efficacy. Ideally, we should search for genetic and molecular biomarker-based profiles...
February 28, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28247182/impact-of-availability-of-companion-diagnostics-on-the-clinical-development-of-anticancer-drugs
#10
Ariadna Tibau, Laura Díez-González, Beatriz Navarro, Eva M Galán-Moya, Arnoud J Templeton, Bostjan Seruga, Atanasio Pandiella, Eitan Amir, Alberto Ocana
BACKGROUND: Companion diagnostics permit the selection of patients likely to respond to targeted anticancer drugs; however, it is unclear if the drug development process differs between drugs developed with or without companion diagnostics. Identification of differences in study design could help future clinical development. PATIENTS AND METHODS: Anticancer drugs approved for use in solid tumors between 28 September 2000 and 4 January 2014 were identified using a search of the US FDA website...
February 28, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28247181/detection-of-pik3ca-mutations-in-plasma-dna-of-colorectal-cancer-patients-by-an-ultra-sensitive-pna-mediated-pcr
#11
Qian Zeng, Li Xie, Na Zhou, Min Liu, Xianrang Song
BACKGROUND: Mutant Phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) has been shown to be associated with the occurrence, development and prognosis in colorectal cancer (CRC). However, its detection has been limited because of complicated procedures and the low sensitivity of the present approaches. METHODS: We established an ultra-sensitive peptide nucleic acid-mediated polymerase chain reaction (PNA-PCR) assay to detect PIK3CA gene mutation in exon 9 and exon 20 with cell-free DNA (cfDNA)...
February 28, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28229366/mining-cancer-transcriptomes-bioinformatic-tools-and-the-remaining-challenges
#12
Thomas Milan, Brian T Wilhelm
The development of next-generation sequencing technologies has had a profound impact on the field of cancer genomics. With the enormous quantities of data being generated from tumor samples, researchers have had to rapidly adapt tools or develop new ones to analyse the raw data to maximize its value. While much of this effort has been focused on improving specific algorithms to get faster and more precise results, the accessibility of the final data for the research community remains a significant problem. Large amounts of data exist but are not easily available to researchers who lack the resources and experience to download and reanalyze them...
February 22, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28213806/clinical-ugt1a1-genetic-analysis-in-pediatric-patients-experience-of-a-reference-laboratory
#13
Ann M Moyer, Jennifer M Skierka, Katrina E Kotzer, Michelle L Kluge, John L Black, Linnea M Baudhuin
BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. Crigler-Najjar syndrome or Gilbert syndrome). METHODS: In our reference laboratory, we performed UGT1A1 gene sequencing analysis on 346 pediatric patients referred for a clinical indication of hyperbilirubinemia. RESULTS: Males (n = 241) had significantly higher mean total bilirubin concentration compared to females (n = 105) (9...
February 17, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28197949/the-impact-of-next-generation-sequencing-on-the-diagnosis-and-treatment-of-epilepsy-in-paediatric-patients
#14
REVIEW
Davide Mei, Elena Parrini, Carla Marini, Renzo Guerrini
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella definition of epileptic encephalopathies, thereby influencing treatment choices and limiting the most aggressive drug regimens only to those conditions that are likely to actually benefit from them...
February 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28164252/snap-tag-technology-a-promising-tool-for-ex-vivo-immunophenotyping
#15
Swati Choudhary, Stefan Barth, Rama S Verma
BACKGROUND: SNAP-tag, a self-labeling protein tag, is commonly used for in vitro and in vivo analysis of bound target proteins. We report the first evidence that SNAP-tag could be used for ex vivo detection of enriched biological markers. METHODS: Proof of concept was established for target c-kit receptor, a pathological and diagnostic marker for a variety of cancers. SNAP-tag conjugates with stem-cell factor (SCF) fusion proteins were designed and their binding and specificity was validated in vitro using flow cytometry and immunostaining...
February 6, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28161869/high-resolution-melting-analysis-is-very-useful-to-identify-breast-cancer-type-1-susceptibility-protein-brca1-c-4964_4982del19-rs80359876-founder-calabrian-pathogenic-variant-on-peripheral-blood-and-buccal-swab-dna
#16
Angelo Minucci, Maria De Bonis, Elisa De Paolis, Leonarda Gentile, Concetta Santonocito, Paola Concolino, Flavio Mignone, Ettore Capoluongo
INTRODUCTION: Detection of pathogenic variants in hereditary breast and ovarian cancer-related breast cancer type 1 and type 2 susceptibility proteins (BRCA1/2) genes is an effective strategy in cancer prevention and treatment. Some ethnic and geographical regions show different BRCA1/2 mutation spectrum and prevalence. In Italy, elucidation of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a healthcare system level, making genetic testing more affordable and cost effective in certain regions...
February 4, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28160193/correlation-between-tumor-mesothelin-expression-and-serum-mesothelin-in-patients-with-epithelial-ovarian-carcinoma-a-potential-noninvasive-biomarker-for-mesothelin-targeted-therapy
#17
Tatsuya Hanaoka, Kosei Hasegawa, Tomomi Kato, Sho Sato, Akira Kurosaki, Akiko Miyara, Shoji Nagao, Hiroyuki Seki, Masanori Yasuda, Keiichi Fujiwara
BACKGROUND: The cell surface glycoprotein mesothelin is highly expressed in several malignant diseases. Normal mesothelin expression is limited to mesothelial cells lining the pleura, peritoneum, and pericardium, making it a biomarker and an attractive target for cancer therapy. METHODS: We investigated tumor mesothelin expression and serum mesothelin levels in patients with epithelial ovarian cancer or borderline tumors. In total, 161 patients selected from a previous prospective study were analyzed for tumor mesothelin expression using immunohistochemistry and serum mesothelin expression using enzyme-linked immunosorbent assay...
February 3, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28130758/hla-c-06-02-does-not-predispose-to-clinical-response-following-long-term-adalimumab-treatment-in-psoriatic-patients-a-retrospective-cohort-study
#18
Marina Talamonti, Marco Galluzzo, Arianna Zangrilli, Marina Papoutsaki, Colin Gerard Egan, Mauro Bavetta, Sara Tambone, Maria Concetta Fargnoli, Luca Bianchi
BACKGROUND: The genetic basis of predisposition to psoriasis is recognised; however, the response to psoriasis treatment in patients with different genetic predisposition is poorly understood. OBJECTIVE: To analyse the presence of the HLA-C*06:02 polymorphism in psoriatic patients treated with adalimumab. METHODS: Genomic DNA was extracted from whole blood of 122 patients with moderate-to-severe psoriasis treated with adalimumab for 3 years...
January 28, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28130757/microrna-29-a-crucial-player-in-fibrotic-disease
#19
REVIEW
Zhenjun Deng, Yongjing He, Xujuan Yang, Hang Shi, Ao Shi, Lechun Lu, Li He
Fibrosis is a common pathological state characterized by the excessive accumulation of extracellular matrix components, but the pathogenesis of the disease is still not clear. Previous studies have shown that microRNA-29 (miR-29) can play pivotal roles in the regulation of a variety of organ fibrosis, including cardiac fibrosis, hepatic fibrosis, lung fibrosis, systemic sclerosis, and keloid. In this review, we outline the structure, expression, and regulation of miR-29 as well as its role in fibrotic diseases...
January 28, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28155091/epi-procolon-%C3%A2-2-0-ce-a-blood-based-screening-test-for-colorectal-cancer
#20
Yvette N Lamb, Sohita Dhillon
Epi proColon(®) 2.0 CE is a blood-based test designed to aid in the early detection of colorectal cancer. The test comprises a qualitative assay for the polymerase chain reaction (PCR) detection of methylated Septin9 DNA, the presence of which is associated with colorectal cancer: however, positive results should be verified by colonoscopy or sigmoidoscopy. Epi proColon(®) 2.0 CE discriminated between patients with colorectal cancer and healthy controls with high clinical sensitivity and specificity in pivotal case-control studies...
April 2017: Molecular Diagnosis & Therapy
journal
journal
41252
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"