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Mutation analysis biomarkers cancer

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https://www.readbyqxmd.com/read/29782524/leucocytes-telomere-length-and-breast-cancer-risk-susceptibility-a-case-control-study
#1
Sofia Pavanello, Liliana Varesco, Viviana Gismondi, Paolo Bruzzi, Claudia Bolognesi
BACKGROUND: Telomere length in peripheral blood leukocytes (PBL-TL) was proposed as a biomarker of cancer risk. Recent scientific evidence suggested PBL-TL plays a diverse role in different cancers. Inconsistent results were obtained on PBL-TL in relation to breast cancer risk and specifically to the presence of BRCA1 and BRCA2 mutations. The aim of the present case-control study was to analyse the correlation between family history of breast cancer or presence of a BRCA mutation and PBL-TL in the hypothesis that TL is a modifier of cancer risk...
2018: PloS One
https://www.readbyqxmd.com/read/29767438/serum-sp70-is-a-sensitive-predictor-of-chemotherapy-response-in-patients-with-advanced-nonsmall-cell-lung-cancer
#2
Jingping Liu, Wei Zhang, Min Gu, Yazhou Ji, Lu Yang, Xiangjun Cheng, Xuelian Xiao, Jian Xu, Chunrong Gu, Jiexin Zhang, Shichang Zhang, Dan Chen, Shiyang Pan
SP70 is a novel tumor biomarker in patients with nonsmall cell lung cancer (NSCLC). However, its role as a marker for predicting the response to chemotherapy for patients with advanced NSCLC has not been investigated. A total of 152 patients were enrolled. Serum SP70, carcinoembryonic antigen (CEA), cytokeratin 19 fragment (CYFRA21-1), and neuron-specific enolase (NSE) were detected before and after 2 cycles of chemotherapy. The correlation between serum tumor biomarker levels and chemotherapy responses and their association with epidermal growth factor receptor (EGFR) mutation status and progression-free survival (PFS) were analyzed...
May 16, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29766829/acute-myeloid-leukemia-diagnosis-and-management-based-on-current-molecular-genetics-approach
#3
E Suguna, R Farhana, E Kanimozhi, P SaiKumar, G Kumaramanickavel, Chitralekha Sai Kumar
Background &Objective: Acute myeloid leukemia (AML) is characterized by accumulation of ?20% myeloid premature blast cells in the bone marrow and most often found in the peripheral blood. AML is generally classified based on two groups, namely, French-American-British (FAB) and World Health Organization (WHO) systems. For better clinical management, cytogenetic findings in AML are necessary and in patients with normal karyotypes, molecular analysis becomes critical. Mutations of certain genes like Nucleophosmin 1gene (NPM1), Fms-related Tyrosine Kinase 3 (FLT3), CCAAT/Enhancer Binding Protein Alpha (CEBPA), Runt-related transcription factor 1(RUNX1), and Mixed Lineage Leukemia (MLL) play a crucial role in the risk management and clinical stratification of AML patients...
May 15, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29765551/functional-significance-of-co-occurring-mutations-in-pik3ca-and-map3k1-in-breast-cancer
#4
Alvaro Avivar-Valderas, Robert McEwen, Amir Taheri-Ghahfarokhi, Larissa S Carnevalli, Elizabeth L Hardaker, Marcello Maresca, Kevin Hudson, Elizabeth A Harrington, Francisco Cruzalegui
The PI3Kα signaling pathway is frequently hyper-activated in breast cancer (BrCa), as a result of mutations/amplifications in oncogenes (e.g. HER2 ), decreased function in tumor suppressors (e.g. PTEN ) or activating mutations in key components of the pathway. In particular, activating mutations of PIK3CA (~45%) are frequently found in luminal A BrCa samples. Genomic studies have uncovered inactivating mutations in MAP3K1 (13-20%) and MAP2K4 (~8%), two upstream kinases of the JNK apoptotic pathway in luminal A BrCa samples...
April 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29764592/-analysis-of-the-first-diagnosis-symptom-and-its-influencing-factors-in-500-patients-with-lung-cancer
#5
Xin Zhang, Puyuan Xing, Xuezhi Hao, Junling Li
BACKGROUND: As the morbidity and mortality in lung cancer keep raising, we are here to discuss the effect of clinical features especially the initial symptomon on diagnosis and follow-up treatment of newly diagnosed lung cancer patients. METHODS: The clinical features of the 500 patients with lung cancer in our hospital from March, 2017 to May, 2017 were analyzed retrospectively, including the initial symptom, stage, biomarkers, pathology, etc. RESULTS: There were 266 famle (53...
May 20, 2018: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
https://www.readbyqxmd.com/read/29759193/highly-sensitive-detection-and-mutational-analysis-of-lung-cancer-circulating-tumor-cells-using-integrated-combined-immunomagnetic-beads-with-a-droplet-digital-pcr-chip
#6
Wanlei Gao, Ting Huang, Haojun Yuan, Jun Yang, Qinghui Jin, Chunping Jia, Guoxin Mao, Jianlong Zhao
Circulating tumor cells (CTCs) have become an important biomarker for liquid biopsy to monitor tumor progression and indicate response to therapies. Many epithelial cellular adhesion molecule (EpCAM) dependent CTC isolation methods have been developed, which have a limitation for low EpCAM expressed tumor cells. In an effort to overcome these drawbacks, we developed combined immunomagnetic beads (EpCAM, Mucin1 and epidermal growth factor receptor) to sensitively isolate CTCs for immunofluorescence analysis and genetic characterization...
August 1, 2018: Talanta
https://www.readbyqxmd.com/read/29753165/diagnosis-of-egfr-exon21-l858r-point-mutation-as-lung-cancer-biomarker-by-electrochemical-dna-biosensor-based-on-reduced-graphene-oxide-functionalized-ordered-mesoporous-carbon-ni-oxytetracycline-metallopolymer-nanoparticles-modified-pencil-graphite-electrode
#7
Yalda Shoja, Ahmad Kermanpur, Fathallah Karimzadeh
In this present work we made a novel, fast, selective and sensitive electrochemical genobiosensor to detection of EGFR exon 21 point mutation based on two step electropolymerization of Ni(II)-oxytetracycline conducting metallopolymer nanoparticles (Ni-OTC NPs) on the surface of pencil graphite electrode (PGE) which was modified by reduced graphene oxide/carboxyl functionalized ordered mesoporous carbon (rGO/f-OMC) nanocomposite. ssDNA capture probe with amine groups at the5' end which applied as recognition element was immobilized on the rGO/f-OMC/PGE surface via the strong amide bond...
April 14, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29741404/overexpression-of-fn14-in-gliomas-tumor-progression-and-poor-prognosis
#8
Dan Tan, Feng-Mei Pang, Dan Li, Longbo Zhang, Jun Wu, Zhao-Qian Liu, Xi Li, Han Yan
AIM: To confirm whether the expression level of Fn14 could affect progression or prognosis of glioma patients. METHODS: Glioma cohorts in The Cancer Genome Atlas, Gene Expression Omnibus and Chinese Glioma Genome Atlas databases were comprehensively analyzed. RESULTS: Low-grade patients had lower expression level of Fn14, while patients with higher expression of Fn14 tended to harbor shorter overall survival and disease-free survival. The expression level of Fn14 was downregulated by IDH1/IDH2 mutations while its gene body methylation was upregulated...
May 9, 2018: Future Oncology
https://www.readbyqxmd.com/read/29733545/overexpression-of-s100a14-contributes-to-malignant-progression-and-predicts-poor-prognosis-of-lung-adenocarcinoma
#9
REVIEW
Fang Ding, Di Wang, Xu-Kun Li, Lin Yang, Hui-Ying Liu, Wei Cui, Zhi-Hua Liu, Yi-Qun Che
BACKGROUND: S100A14 is a member of the S100 calcium-binding protein family that exerts important phenotypic effects on cell proliferation, apoptosis, differentiation, and motility. However, the functional role and potential clinical significance of S100A14 in lung adenocarcinoma has not yet been clarified. METHODS: We analyzed genomic alterations of S100A14 using The Cancer Genome Atlas lung adenocarcinoma genomic dataset. S100A14 displayed significant copy number amplification in lung adenocarcinoma...
May 7, 2018: Thoracic Cancer
https://www.readbyqxmd.com/read/29732009/non-invasive-tumor-genotyping-using-radiogenomic-biomarkers-a-systematic-review-and-oncology-wide-pathway-analysis
#10
REVIEW
Robin W Jansen, Paul van Amstel, Roland M Martens, Irsan E Kooi, Pieter Wesseling, Adrianus J de Langen, Catharina W Menke-Van der Houven van Oordt, Bernard H E Jansen, Annette C Moll, Josephine C Dorsman, Jonas A Castelijns, Pim de Graaf, Marcus C de Jong
With targeted treatments playing an increasing role in oncology, the need arises for fast non-invasive genotyping in clinical practice. Radiogenomics is a rapidly evolving field of research aimed at identifying imaging biomarkers useful for non-invasive genotyping. Radiogenomic genotyping has the advantage that it can capture tumor heterogeneity, can be performed repeatedly for treatment monitoring, and can be performed in malignancies for which biopsy is not available. In this systematic review of 187 included articles, we compiled a database of radiogenomic associations and unraveled networks of imaging groups and gene pathways oncology-wide...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29725452/assessment-of-basal-like-breast-cancer-by-circulating-tumor-dna-analysis
#11
Wei Wei, Xianyu Zhang, Shanshan Sun, Bingshu Xia, Xiaoshuan Liang, Yan Cui, Song Gao, Da Pang
Standardized methods for the detection and assessment of circulating tumor DNA (ctDNA) in breast cancer are not sufficient. In the present study, the method and the potential application of ctDNA in the diagnosis of breast cancer were explored. DNA was extracted from the tumor tissues, plasma and peripheral blood cells of 11 patients with early-stage invasive breast cancer. Primers were designed against the exons of phosphatidylinositol-4,5-biphosphate 3-kinase catalytic subunit α, p53, epidermal growth factor receptor, Akt and phosphatase and tensin homolog...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29725014/clinical-and-genomic-landscape-of-gastric-cancer-with-a-mesenchymal-phenotype
#12
Sang Cheul Oh, Bo Hwa Sohn, Jae-Ho Cheong, Sang-Bae Kim, Jae Eun Lee, Ki Cheong Park, Sang Ho Lee, Jong-Lyul Park, Yun-Yong Park, Hyun-Sung Lee, Hee-Jin Jang, Eun Sung Park, Sang-Cheol Kim, Jeonghoon Heo, In-Sun Chu, You-Jin Jang, Young-Jae Mok, WonKyung Jung, Baek-Hui Kim, Aeree Kim, Jae Yong Cho, Jae Yun Lim, Yuki Hayashi, Shumei Song, Elena Elimova, Jeannelyn S Estralla, Jeffrey H Lee, Manoop S Bhutani, Yiling Lu, Wenbin Liu, Jeeyun Lee, Won Ki Kang, Sung Kim, Sung Hoon Noh, Gordon B Mills, Seon-Young Kim, Jaffer A Ajani, Ju-Seog Lee
Gastric cancer is a heterogeneous cancer, making treatment responses difficult to predict. Here we show that we identify two distinct molecular subtypes, mesenchymal phenotype (MP) and epithelial phenotype (EP), by analyzing genomic and proteomic data. Molecularly, MP subtype tumors show high genomic integrity characterized by low mutation rates and microsatellite stability, whereas EP subtype tumors show low genomic integrity. Clinically, the MP subtype is associated with markedly poor survival and resistance to standard chemotherapy, whereas the EP subtype is associated with better survival rates and sensitivity to chemotherapy...
May 3, 2018: Nature Communications
https://www.readbyqxmd.com/read/29724815/biomarker-assessment-of-hr-deficiency-tumor-brca1-2-mutations-and-ccne1-copy-number-in-ovarian-cancer-associations-with-clinical-outcome-following-platinum-monotherapy
#13
Euan A Stronach, James Paul, Kirsten M Timms, Elisha Hughes, Krystal Brown, Chris Neff, Michael Perry, Alexander Gutin, Mona El-Bahrawy, Jennifer H Steel, Xinxue Liu, Liz-Anne Lewsley, Nadeem Siddiqui, Hani Gabra, Jerry S Lanchbury, Robert Brown
The current study evaluated three biomarkers [homologous recombination deficiency (HRD), tumor BRCA1/2 (tBRCA) mutations, and CCNE1 copy number variation (CNV)] in ovarian tumors from patients enrolled on the SCOTROC4 clinical trial for associations with outcome following carboplatinum monotherapy. Ovarian tumors (n=250), with high-grade serous (HGSOC) subgroup analysis (n=179), were classified as HRD positive (HRD score ≥42 or tBRCA mutation) and as CCNE1 amplification positive (CCNE1 CNV score >2.4)...
May 3, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29720878/-egfr-kras-braf-pten-and-pik3ca-mutation-in-plasma-of-small-cell-lung-cancer-patients
#14
Hong-Yang Lu, Jing Qin, Na Han, Lei Lei, Fajun Xie, Chenghui Li
Background: Small cell lung cancer (SCLC) is an aggressive and deadly neuroendocrine tumor derived from bronchial epithelial cells. Although it results in a 95% mortality rate, the development of targeted therapies for SCLCs has lagged behind. The aim of this study is to better research mutation characteristics of SCLC and identify potential biomarkers for target therapy. Methods: We utilized high-resolution melting analysis to identify the mutations in epidermal growth factor receptor ( EGFR ), Kirsten rat sarcoma viral oncogene ( KRAS ), v-raf murine sarcoma viral oncogene homolog B1 ( BRAF ), phosphatase and tensin homolog ( PTEN ), and phosphatidylinositol-3-kinase catalytic ( PIK3CA ) from the blood...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29719623/validation-and-comparison-of-two-ngs-assays-for-the-detection-of-egfr-t790m-resistance-mutation-in-liquid-biopsies-of-nsclc-patients
#15
Claudia Vollbrecht, Annika Lehmann, Dido Lenze, Michael Hummel
Analysis of circulating cell-free DNA (cfDNA) derived from peripheral blood ("liquid biopsy") is an attractive alternative to identify non-small cell lung cancer (NSCLC) patients with the EGFR T790M mutation eligible for 3rd generation tyrosine kinase inhibitor therapy. We evaluated two PCR-based next generation sequencing (NGS) approaches, one including unique molecular identifiers (UMI), with focus on highly sensitive EGFR T790M mutation detection. Therefore, we extracted and sequenced cfDNA from synthetic plasma samples spiked with mutated DNA at decreasing allele frequencies and from 21 diagnostic NSCLC patients...
April 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29719599/fanconi-anemia-and-homologous-recombination-gene-variants-are-associated-with-functional-dna-repair-defects-in-vitro-and-poor-outcome-in-patients-with-advanced-head-and-neck-squamous-cell-carcinoma
#16
Caroline V M Verhagen, David M Vossen, Kerstin Borgmann, Floor Hageman, Reidar Grénman, Manon Verwijs-Janssen, Lisanne Mout, Roel J C Kluin, Marja Nieuwland, Tesa M Severson, Arno Velds, Ron Kerkhoven, Mark J O'Connor, Martijn van der Heijden, Marie-Louise van Velthuysen, Marcel Verheij, Volkert B Wreesmann, Lodewyk F A Wessels, Michiel W M van den Brekel, Conchita Vens
Mutations in Fanconi Anemia or Homologous Recombination (FA/HR) genes can cause DNA repair defects and could therefore impact cancer treatment response and patient outcome. Their functional impact and clinical relevance in head and neck squamous cell carcinoma (HNSCC) is unknown. We therefore questioned whether functional FA/HR defects occurred in HNSCC and whether they are associated with FA/HR variants. We assayed a panel of 29 patient-derived HNSCC cell lines and found that a considerable fraction is hypersensitive to the crosslinker Mitomycin C and PARP inhibitors, a functional measure of FA/HR defects...
April 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29718092/updated-results-from-monaleesa-2-a-phase-iii-trial-of-first-line-ribociclib-plus-letrozole-versus-placebo-plus-letrozole-in-hormone-receptor-positive-her2-negative-advanced-breast-cancer
#17
G N Hortobagyi, S M Stemmer, H A Burris, Y S Yap, G S Sonke, S Paluch-Shimon, M Campone, K Petrakova, K L Blackwell, E P Winer, W Janni, S Verma, P Conte, C L Arteaga, D A Cameron, S Mondal, F Su, M Miller, M Elmeliegy, C Germa, J O'Shaughnessy
Background: The phase III MONALEESA-2 study demonstrated significantly prolonged progression-free survival (PFS) and a manageable toxicity profile for first-line ribociclib plus letrozole versus placebo plus letrozole in patients with hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) advanced breast cancer. Here we report updated efficacy and safety data, together with exploratory biomarker analyses, from the MONALEESA-2 study. Patients and methods: A total of 668 postmenopausal women with HR+, HER2- recurrent/metastatic breast cancer were randomized (1:1; stratified by presence/absence of liver and/or lung metastases) to ribociclib (600 mg/day; 3-weeks-on/1-week-off; 28-day treatment cycles) plus letrozole (2...
April 27, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29716923/interferon-gamma-messenger-rna-signature-in-tumor-biopsies-predicts-outcomes-in-patients-with-non-small-cell-lung-carcinoma-or-urothelial-cancer-treated-with-durvalumab
#18
Brandon W Higgs, Christopher Morehouse, Katie L Streicher, Philip Brohawn, Fernanda Pilataxi, Ashok Gupta, Koustubh Ranade
PURPOSE: To identify a predictive biomarker for durvalumab, an anti-programmed death ligand 1 (PD-L1) monoclonal antibody. EXPERIMENTAL DESIGN: RNA sequencing of 97 advanced-stage non-small-cell lung carcinoma (NSCLC) biopsies from a nonrandomized phase 1b/2 clinical trial (1108/NCT01693562) were profiled to identify a predictive signature; 62 locally advanced or metastatic urothelial cancer (UC) tumors from the same study were profiled to confirm predictive utility of the signature...
May 1, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29715621/elevated-mir-20b-5p-expression-in-peripheral-blood-mononuclear-cells-a-novel-independent-molecular-biomarker-of-favorable-prognosis-in-chronic-lymphocytic-leukemia
#19
Sotirios G Papageorgiou, Christos K Kontos, Panagiotis Tsiakanikas, Georgia Stavroulaki, Anthi Bouchla, Diamantina Vasilatou, Efthymia Bazani, Afroditi Lazarakou, Andreas Scorilas, Vasiliki Pappa
MicroRNA-20b-5p (miR-20b-5p) is part of the miR-106a/363 cluster and a member of the cancer-related miR-17 family. miR-20b-5p regulates important transcription factors, including hypoxia-inducible factor 1 (HIF1) and signal transducer and activator of transcription 3 (STAT3). Recently, the dysregulation of miR-20b-5p expression has been observed in many B-cell lymphomas and T-cell leukemias. In this research study, we examined the putative prognostic value of miR-20b-5p in CLL. Therefore, total RNA was isolated from peripheral blood mononuclear cells (PBMCs) collected from 88 CLL patients; next, total RNA was polyadenylated and first-strand cDNA was synthesized, using an oligo-dT-adapter primer...
April 26, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29714649/personalized-therapy-based-on-sequential-molecular-analysis-leads-to-30-months-of-survival-in-a-patient-with-diffuse-unresectable-gastric-linitis-plastica
#20
Linda Mahjoubi, Fabiola Cecchi, Christophe Massard, Fabio Calabro, Anas Gazzah, Rastislav Bahleda, Philippe Jamme, Maximiliano Gelli, Diane Goere, Ludovic Lacroix, Julien Adam, Lukas Heukamp, Patrizia Trenta, Todd Hembrough, Jean-Charles Soria, Cora Sternberg, Michel Ducreux
INTRODUCTION: Diffuse gastric cancer is associated with poor prognosis. We report a patient with metastatic gastric linitis plastica harboring human epidermal growth factor receptor 2 ( HER2) activating mutation and HER2 amplification. CASE DESCRIPTION: The patient received 5-fluorouracil/folinic acid and oxaliplatin combined with trastuzumab/pertuzumab, resulting in disease control for 8 months. Second-line therapy with nivolumab and trastuzumab/pertuzumab was well-tolerated, with macroscopic peritoneal response...
March 1, 2018: Tumori
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