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https://www.readbyqxmd.com/read/29456854/novel-braf-mutation-in-melanoma-a-case-report
#1
Serena Trubini, Alessandro Ubiali, Carlo Terenzio Paties, Luigi Cavanna
In melanoma, a number of specific genetic and genomic aberrations have been identified to be important in tumorigenesis. In particular, the mutant B-Raf proto-oncogene, Serine/Threonine kinase (BRAF) gene is the target of tailored therapy with kinase inhibitor molecules. Identification of the array of mutations in patients with melanoma will be useful in determining a genetic profile of the tumor with potential implications for treatment decisions. A rare aminoacidic insertion in codon 599 of the BRAF gene (c...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29456739/effects-of-pha-665752-and-vemurafenib-combination-treatment-on-in-vitro-and-murine-xenograft-growth-of-human-colorectal-cancer-cells-with-braf-v600e-mutations
#2
Jie Zhi, Zhongxin Li, Jian Lv, Bo Feng, Donghai Yang, Liang Xue, Zhaolong Zhao, Yanni Zhang, Jianhua Wu, Yingchao Jv, Yitao Jia
It remains unknown whether blockade of B-Raf proto-oncogene, serine/threonine kinase (BRAF)V600E signaling and MET proto-oncogene, receptor tyrosine kinase (c-Met) signaling is effective in suppressing the growth of human colorectal cancer (CRC) cells. The present study investigated the effects of the vemurafenib alone and in combination with c-Met inhibitor PHA-665752 on the growth of human CRC cells in vitro and in mouse xenografts. HT-29 and RKO CRC cell lines with BRAFV600E mutations and mice bearing HT-29 xenografts were treated with vemurafenib in the absence or presence of PHA-665752...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29456550/genomic-analysis-revealed-new-oncogenic-signatures-in-tp53-mutant-hepatocellular-carcinoma
#3
Venkatesh Kancherla, Samir Abdullazade, Matthias S Matter, Manuela Lanzafame, Luca Quagliata, Guglielmo Roma, Yujin Hoshida, Luigi M Terracciano, Charlotte K Y Ng, Salvatore Piscuoglio
The TP53 gene is the most commonly mutated gene in human cancers and mutations in TP53 have been shown to have either gain-of-function or loss-of-function effects. Using the data generated by The Cancer Genome Atlas, we sought to define the spectrum of TP53 mutations in hepatocellular carcinomas (HCCs) and their association with clinicopathologic features, and to determine the oncogenic and mutational signatures in TP53 -mutant HCCs. Compared to other cancer types, HCCs harbored distinctive mutation hotspots at V157 and R249, whereas common mutation hotspots in other cancer types, R175 and R273, were extremely rare in HCCs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29455667/role-of-non-receptor-tyrosine-kinases-in-hematological-malignances-and-its-targeting-by-natural-products
#4
REVIEW
Kodappully S Siveen, Kirti S Prabhu, Iman W Achkar, Shilpa Kuttikrishnan, Sunitha Shyam, Abdul Q Khan, Maysaloun Merhi, Said Dermime, Shahab Uddin
Tyrosine kinases belong to a family of enzymes that mediate the movement of the phosphate group to tyrosine residues of target protein, thus transmitting signals from the cell surface to cytoplasmic proteins and the nucleus to regulate physiological processes. Non-receptor tyrosine kinases (NRTK) are a sub-group of tyrosine kinases, which can relay intracellular signals originating from extracellular receptor. NRTKs can regulate a huge array of cellular functions such as cell survival, division/propagation and adhesion, gene expression, immune response, etc...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455666/kras-oncogene-in-non-small-cell-lung-cancer-clinical-perspectives-on-the-treatment-of-an-old-target
#5
REVIEW
Marta Román, Iosune Baraibar, Inés López, Ernest Nadal, Christian Rolfo, Silvestre Vicent, Ignacio Gil-Bazo
Lung neoplasms are the leading cause of death by cancer worldwide. Non-small cell lung cancer (NSCLC) constitutes more than 80% of all lung malignancies and the majority of patients present advanced disease at onset. However, in the last decade, multiple oncogenic driver alterations have been discovered and each of them represents a potential therapeutic target. Although KRAS mutations are the most frequently oncogene aberrations in lung adenocarcinoma patients, effective therapies targeting KRAS have yet to be developed...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455650/management-of-acquired-resistance-to-egfr-tki-targeted-therapy-in-advanced-non-small-cell-lung-cancer
#6
REVIEW
Shang-Gin Wu, Jin-Yuan Shih
Recent advances in diagnosis and treatment are enabling a more targeted approach to treating lung cancers. Therapy targeting the specific oncogenic driver mutation could inhibit tumor progression and provide a favorable prognosis in clinical practice. Activating mutations of epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) are a favorable predictive factor for EGFR tyrosine kinase inhibitors (TKIs) treatment. For lung cancer patients with EGFR-exon 19 deletions or an exon 21 Leu858Arg mutation, the standard first-line treatment is first-generation (gefitinib, erlotinib), or second-generation (afatinib) TKIs...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455644/mir-19b-enhances-proliferation-and-apoptosis-resistance-via-the-egfr-signaling-pathway-by-targeting-pp2a-and-bim-in-non-small-cell-lung-cancer
#7
Ulrich Baumgartner, Fabienne Berger, Ali Hashemi Gheinani, Sabrina Sofia Burgener, Katia Monastyrskaya, Erik Vassella
BACKGROUND: Epidermal growth factor receptor (EGFR) mutations enable constitutive active downstream signaling of PI3K/AKT, KRAS/ERK and JAK/STAT pathways, and promote tumor progression by inducing uncontrolled proliferation, evasion of apoptosis and migration of non-small cell lung cancer (NSCLC). In addition, such EGFR mutations increase the susceptibility of patients with NSCLC to tyrosine kinase inhibitor (TKI) therapy, but treated patients will invariably relapse with resistant disease...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455642/role-and-targeting-of-anaplastic-lymphoma-kinase-in-cancer
#8
REVIEW
Carminia Maria Della Corte, Giuseppe Viscardi, Raimondo Di Liello, Morena Fasano, Erika Martinelli, Teresa Troiani, Fortunato Ciardiello, Floriana Morgillo
Anaplastic lymphoma kinase (ALK) gene activation is involved in the carcinogenesis process of several human cancers such as anaplastic large cell lymphoma, lung cancer, inflammatory myofibroblastic tumors and neuroblastoma, as a consequence of fusion with other oncogenes (NPM, EML4, TIM, etc) or gene amplification, mutation or protein overexpression. ALK is a transmembrane tyrosine kinase receptor that, upon ligand binding to its extracellular domain, undergoes dimerization and subsequent autophosphorylation of the intracellular kinase domain...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455549/multiple-endocrine-neoplasia-2a-men-2a-syndrome
#9
J Breza, J Breza
INTRODUCTION: In the MEN 2A syndrome, which is the most common of the three types of MEN, three endocrine systems are affected simultaneously or subsequently by the development of tumours manifested by medullary thyroid gland carcinoma, pheochromocytoma (often bilateral) and hyperparathyroidism. MATERIAL AND METHODS: 27 patients from 3 families affected by MEN 2A syndrome were examined clinically (by detecting the effects of catecholamine overproduction), biochemically (screening for metanephrine and normetanephrine in the serum), visualization (CT, MRI, MIBG, PET CT) and some of them also genetically (DNA fragment analysis obtained by PCR amplification)...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29454587/comparison-of-ct-radiogenomic-and-clinical-characteristics-between-egfr-and-kras-mutations-in-lung-adenocarcinomas
#10
J Lv, H Zhang, J Ma, Y Ma, G Gao, Z Song, Y Yang
AIM: To compare computed tomography (CT) radiogenomic and clinical characteristics between patients with epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene (KRAS) mutations in lung adenocarcinomas. MATERIALS AND METHODS: This study was a retrospective analysis of patients with histopathologically confirmed lung adenocarcinoma, who had complete clinical and imaging data, and were tested for EGFR and KRAS mutations. Of the 313 included patients, 116 had effective EGFR mutations (EGFR group), 31 had KRAS mutations (KRAS group), and 166 had no EGFR or KRAS mutations (control group)...
February 14, 2018: Clinical Radiology
https://www.readbyqxmd.com/read/29454568/the-phenotypic-heterogeneity-of-hereditary-diffuse-gastric-cancer-the-report-of-one-family-with-early-onset-disease
#11
Irene Gullo, Vitor Devezas, Manuela Baptista, Luzia Garrido, Sérgio Castedo, Rui Morais, Xiaogang Wen, Elisabete Rios, Jorge Pinheiro, Inȇs Pinto-Ribeiro, Rui M Ferreira, John Preto, João Santos-Antunes, Margarida Marques, Miquel Campos, Filipe Almeida, Maria do Céu Espinheira, Jorge Amil Dias, Céu Figueiredo, Carla Oliveira, Eunice Trindade, Fátima Carneiro
BACKGROUND AND AIMS: The time-course for the development of clinically significant hereditary diffuse gastric cancer (HDGC) is unpredictable. Little is known about the progression from pre-clinical, indolent lesions to widely invasive, aggressive phenotypes. Gastro-endoscopy often fails to detect early lesions and risk-reducing/prophylactic total gastrectomy (PTG) is the only curative approach. We present a HDGC family with early-onset disease, in which clinical and histological findings provided insight into the understanding of different HDGC phenotypes...
February 15, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29454261/frequency-of-somatic-tp53-mutations-in-combination-with-known-pathogenic-mutations-in-colon-adenocarcinoma-non-small-cell-lung-carcinoma-and-gliomas-as-identified-by-next-generation-sequencing
#12
Zahra Shajani-Yi, Francine B de Abreu, Jason D Peterson, Gregory J Tsongalis
The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer. It encodes p53, a DNA-binding transcription factor that regulates multiple genes involved in DNA repair, metabolism, cell cycle arrest, apoptosis, and senescence. TP53 is associated with human cancer by mutations that lead to a loss of wild-type p53 function as well as mutations that confer alternate oncogenic functions that enable them to promote invasion, metastasis, proliferation, and cell survival. Identifying the discrete TP53 mutations in tumor cells may help direct therapies that are more effective...
February 13, 2018: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29453361/heterogeneity-and-mutation-in-kras-and-associated-oncogenes-evaluating-the-potential-for-the-evolution-of-resistance-to-targeting-of-kras-g12c
#13
Vincent L Cannataro, Stephen G Gaffney, Carly Stender, Zi-Ming Zhao, Mark Philips, Andrew E Greenstein, Jeffrey P Townsend
Activating mutations in RAS genes are associated with approximately 20% of all human cancers. New targeted therapies show preclinical promise in inhibiting the KRAS G12C variant. However, concerns exist regarding the effectiveness of such therapies in vivo given the possibilities of existing intratumor heterogeneity or de novo mutation leading to treatment resistance. We performed deep sequencing of 27 KRAS G12-positive lung tumors to determine the prevalence of other oncogenic mutations within KRAS or within commonly mutated downstream genes that could confer resistance at the time of treatment...
February 16, 2018: Oncogene
https://www.readbyqxmd.com/read/29451745/detection-of-ros1-positive-non-small-cell-lung-cancer-on-cytological-specimens-using-immunocytochemistry
#14
Tatjana Vlajnic, Spasenija Savic, Audrey Barascud, Betty Baschiera, Michel Bihl, Bruno Grilli, Michelle Herzog, Julien Rebetez, Lukas Bubendorf
BACKGROUND: Rearrangements of the ROS1 oncogene are found in 1% to 2% of non-small cell lung cancers (NSCLC) and are regarded as mutually exclusive oncogenic driver mutations. Since the approval of targeted therapy for ROS1-positive NSCLC, ROS1 testing has become a part of the diagnostic routine. Fluorescence in situ hybridization (FISH), optionally selected for by immunohistochemistry on histological material, is a common practice for the detection of ROS1 rearrangements. However, NSCLC often is diagnosed by cytology alone, requiring predictive marker testing on cytological specimens...
February 16, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29451486/-uveal-melanoma-a-model-disease-for-splicing-alterations-and-oncogenesis
#15
Samar Alsafadi, Lenha Mobuchon, Manuel Rodrigues, Marc-Henri Stern
Uveal melanoma is a rare cancer in adults, whose highly stereotyped oncogenic events have been decrypted over the last decade. Its epidemiological, genetic and transcriptional features make it a remarkable model of oncogenesis. Malignant transformation involves almost mutually exclusive alteration of fundamental biologic pathways, including chromatin regulation with inactivation of BAP1, splicing with mutations of SF3B1 or translation with mutations of EIF1AX. Uveal melanoma analyses unraveled the splicing defect due to SF3B1 mutations...
February 2018: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29450727/metabolic-implications-of-hypoxia-and-pseudohypoxia-in-pheochromocytoma-and-paraganglioma
#16
REVIEW
Katarina Kluckova, Daniel A Tennant
Hypoxia is a critical driver of cancer pathogenesis, directly inducing malignant phenotypes such as epithelial-mesenchymal transition, stem cell-like characteristics and metabolic transformation. However, hypoxia-associated phenotypes are often observed in cancer in the absence of hypoxia, a phenotype known as pseudohypoxia, which is very well documented in specific tumour types, including in paraganglioma/pheochromocytoma (PPGL). Approximately 40% of the PPGL tumours carry a germ line mutation in one of a number of susceptibility genes of which those that are found in succinate dehydrogenase (SDH) or in von Hippel-Lindau (VHL) genes manifest a strong pseudohypoxic phenotype...
February 15, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29450716/could-ivim-and-adc-help-in-predicting-the-kras-status-in-patients-with-rectal-cancer
#17
Yanyan Xu, Qiaoyu Xu, Hongliang Sun, Tongxi Liu, Kaining Shi, Wu Wang
PURPOSE: To evaluate the diagnostic potential of DW-MRI relative parameters for differentiation of rectal cancers with different Kirsten rat sarcoma viral oncogene homologue (KRAS) mutation status. METHODS: Fifty-one patients with rectal cancer underwent diffusion-weighted MR imaging with eight b values. ADCs (including Max-ADC, Min-ADC and Mean-ADC) and IVIM parameters (D, pure diffusion; f, perfusion fraction; D*, pseudodiffusion coefficient) were respectively calculated by mono- and bi-exponential analysis...
February 15, 2018: European Radiology
https://www.readbyqxmd.com/read/29449326/fatty-acid-synthase-mediates-egfr-palmitoylation-in-egfr-mutated-non-small-cell-lung-cancer
#18
Azhar Ali, Elena Levantini, Jun Ting Teo, Julian Goggi, John G Clohessy, Chan Shuo Wu, Leilei Chen, Henry Yang, Indira Krishnan, Olivier Kocher, Junyan Zhang, Ross A Soo, Kishore Bhakoo, Tan Min Chin, Daniel G Tenen
Metabolic reprogramming is widely known as a hallmark of cancer cells to allow adaptation of cells to sustain survival signals. In this report, we describe a novel oncogenic signaling pathway exclusively acting in mutated epidermal growth factor receptor (EGFR) non-small cell lung cancer (NSCLC) with acquired tyrosine kinase inhibitor (TKI) resistance. Mutated EGFR mediates TKI resistance through regulation of the fatty acid synthase (FASN), which produces 16-C saturated fatty acid palmitate. Our work shows that the persistent signaling by mutated EGFR in TKI-resistant tumor cells relies on EGFR palmitoylation and can be targeted by Orlistat, an FDA-approved anti-obesity drug...
February 15, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29446257/utilization-of-direct-smears-of-thyroid-fine-needle-aspirates-for-ancillary-molecular-testing-a-comparison-of-two-proprietary-testing-platforms
#19
Kristen L Partyka, Melissa L Randolph, Karen A Lawrence, Harvey Cramer, Howard H Wu
BACKGROUND: Ancillary molecular testing has been recommended for thyroid fine-needle aspirates (FNA) with indeterminate cytologic diagnoses. Rosetta Genomics and Interpace Diagnostics have developed assays that can utilize direct smears as the testing substrate. METHODS: A retrospective study of indeterminate thyroid FNAs with known histologic follow-up was performed. One Diff-Quik-stained smear and one Papanicolaou-stained smear with similar cellularity (at least 60-100 lesional cells) from each case were sent to Rosetta and Interpace, respectively, for analysis...
February 15, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29445180/myeloid-derived-interleukin-1%C3%AE-drives-oncogenic-kras-nf-%C3%AE%C2%BA%C3%AE-addiction-in-malignant-pleural-effusion
#20
Antonia Marazioti, Ioannis Lilis, Malamati Vreka, Hara Apostolopoulou, Argyro Kalogeropoulou, Ioanna Giopanou, Georgia A Giotopoulou, Anthi C Krontira, Marianthi Iliopoulou, Nikolaos I Kanellakis, Theodora Agalioti, Anastasios D Giannou, Celestial Jones-Paris, Yoichiro Iwakura, Dimitrios Kardamakis, Timothy S Blackwell, Stavros Taraviras, Magda Spella, Georgios T Stathopoulos
Malignant pleural effusion (MPE) is a frequent metastatic manifestation of human cancers. While we previously identified KRAS mutations as molecular culprits of MPE formation, the underlying mechanism remained unknown. Here, we determine that non-canonical IKKα-RelB pathway activation of KRAS-mutant tumor cells mediates MPE development and this is fueled by host-provided interleukin IL-1β. Indeed, IKKα is required for the MPE-competence of KRAS-mutant tumor cells by activating non-canonical NF-κB signaling...
February 14, 2018: Nature Communications
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