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Met mutation

Wei Zhan, Celeste A Shelton, Phil J Greer, Randall E Brand, David C Whitcomb
Pancreatic cancer requires many genetic mutations. Combinations of underlying germline variants and environmental factors may increase the risk of cancer and accelerate the oncogenic process. We systematically reviewed, annotated, and classified previously reported pancreatic cancer-associated germline variants in established risk genes. Variants were scored using multiple criteria and binned by evidence for pathogenicity, then annotated with published functional studies and associated biological systems/pathways...
September 2018: Pancreas
Jian-Liang Pan, Jin Gao, Jian-Hua Hou, De-Zhong Hu, Lin Li
BACKGROUND Various studies have highlighted the link between polymorphisms in the XRCC1 gene (encoding X-ray repair cross-complementing group 1) with the incidence of decreased DNA repair capacity and an increased predisposition to cancer. Catechol-O-methyltransferase (COMT) plays a crucial role in estrogen-induced cancers. In the present study was analyzed the potential influence of XRCC1 and COMT gene polymorphisms as predisposing factors from a lung cancer perspective, in addition to conducting an investigation into their interaction with environmental risk factors in relation to lung cancer among non-smoking Chinese women...
August 15, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Kenney Roy Roodakker, Ali Alhuseinalkhudhur, Mohammed Al-Jaff, Maria Georganaki, Maria Zetterling, Shala G Berntsson, Torsten Danfors, Robin Strand, Per-Henrik Edqvist, Anna Dimberg, Elna-Marie Larsson, Anja Smits
PURPOSE: Oligodendrogliomas are heterogeneous tumors in terms of imaging appearance, and a deeper understanding of the histopathological tumor characteristics in correlation to imaging parameters is needed. We used PET-to-MRI-to-histology co-registration with the aim of studying intra-tumoral 11 C-methionine (MET) uptake in relation to tumor perfusion and the protein expression of histological cell markers in corresponding areas. METHODS: Consecutive histological sections of four tumors covering the entire en bloc-removed tumor were immunostained with antibodies against IDH1-mutated protein (tumor cells), Ki67 (proliferating cells), and CD34 (blood vessels)...
August 14, 2018: European Journal of Nuclear Medicine and Molecular Imaging
Hiroki Sato, Hiromasa Yamamoto, Masakiyo Sakaguchi, Kazuhiko Shien, Shuta Tomida, Tadahiko Shien, Hirokuni Ikeda, Minami Hatono, Hidejiro Torigoe, Kei Namba, Takahiro Yoshioka, Eisuke Kurihara, Yusuke Ogoshi, Yuta Takahashi, Junichi Soh, Shinichi Toyooka
Compensatory activation of the signal transduction pathways is one of the major obstacles for the targeted therapy of non-small cell lung cancer (NSCLC). Herein, we present the therapeutic strategy of combined targeted therapy against the MEK and phosphoinositide-3 kinase (PI3K) pathways for acquired resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) in NSCLC. We investigated the efficacy of combined trametinib plus taselisib therapy using experimentally established EGFR-TKI-resistant NSCLC cell lines...
August 10, 2018: Cancer Science
K Ina Ly, Derek H Oakley, Alexander B Pine, Matthew P Frosch, Sy Han Chiou, Rebecca A Betensky, Stuart R Pomerantz, Fred H Hochberg, Tracy T Batchelor, Daniel P Cahill, Jorg Dietrich
BACKGROUND: The 2016 World Health Organization Classification of Central Nervous System Tumors categorizes gliomatosis cerebri growth pattern (GC) as a subgroup of diffuse infiltrating gliomas, defined by extent of brain involvement on magnetic resonance imaging (MRI). Clinical and radiographic features in GC patients are highly heterogeneous; however, prognosis has historically been considered poor. SUBJECTS, MATERIALS, AND METHODS: We performed a retrospective search for patients at our institution meeting radiographic criteria of primary, type I GC (defined as diffuse tumor infiltration without associated tumor mass and contrast enhancement on MRI) and analyzed their clinical, imaging, and histopathologic features...
August 10, 2018: Oncologist
You-Cai Zhu, Wen-Xian Wang, Chun-Wei Xu, Wu Zhuang, Zheng-Bo Song, Kai-Qi Du, Gang Chen, Tang-Feng Lv, Yong Song
In non-small cell lung cancer (NSCLC), driver gene alterations, such as EGFR, ALK, MET, and ROS1, are usually mutually exclusive. Few clinical cases with co-existing ROS1 fusion and de-novo MET amplification have been reported. In addition, the efficacy of crizotinib in Chinese patients with driver co-existing alterations is uncertain. A 65-year-old female was diagnosed with lung adenocarcinoma metastatic to the brain. She had sufficient tumor tissue for detection of the target gene; however, common driver gene mutations, such as EGFR-wild and ALK-negative, were not initially detected...
August 10, 2018: Cancer Biology & Therapy
Suchita Pakkala, Suresh S Ramalingam
Molecular targeted therapy heralded a new era for the treatment of patients with oncogene-driven advanced-stage non-small-cell lung cancer (NSCLC). Molecular testing at the time of diagnosis guides therapy selection, and targeted therapies in patients with activating mutations in EGFR, BRAF, and rearrangements in anaplastic lymphoma kinase (ALK) and ROS1 have become part of routine care. These therapies have extended the median survival from a mere few months to greater than 3 years for patients with stage 4 disease...
August 9, 2018: JCI Insight
Huy Gia Vuong, An Thi Nhat Ho, Ahmed M A Altibi, Tadao Nakazawa, Ryohei Katoh, Tetsuo Kondo
MET exon 14 mutation is an uncommon genomic alteration in non-small cell lung cancer (NSCLC). This meta-analysis aimed at investigating the clinicopathological and prognostic features of NSCLCs with MET exon 14 mutation in comparison with other genetic events. We performed a search in four electronic databases including PubMed, Web of Science, Scopus, and Virtual Health Library from inception to February 2018. Relevant data were extracted and pooled into odds ratio (OR), mean differences (MD), and corresponding 95% confidence intervals (CI) using the random-effect model...
September 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
Tania Arguello, Caroline Köhrer, Uttham L RajBhandary, Carlos T Moraes
N-Formylation of the Met-tRNAMet by the nuclear-encoded mitochondrial methionyl-tRNA formyl transferase (MTFMT) has been found to be a key determinant of protein synthesis initiation in mitochondria. In humans, mutations in the MTFMT gene result in Leigh syndrome, a progressive and severe neurometabolic disorder. However, the absolute requirement of formylation of Met-tRNAMet for protein synthesis in mammalian mitochondria is still debated. Here, we generated a Mtfmt-KO mouse fibroblast cell line and demonstrated that N-formylation of the first methionine via fMet-tRNAMet by MTFMT is not an absolute requirement for initiation of protein synthesis...
August 7, 2018: Journal of Biological Chemistry
Yan-Gong Wang, Shu-Ping Sun, Yi-Ling Qiu, Qing-He Xing, Wei Lu
BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila "eye absent" gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome. METHODS: The proposita in this study was a 5-year-old Chinese girl with hearing loss, bilateral otitis media with effusion, microtia, facial hypoplasia, palatoschisis, and bilateral branchial cleft fistulae...
August 7, 2018: BMC Medical Genetics
Fayaz Ahmad Wani, Gulnaz Bashir, Mushtaq Ahmad Khan, Showkat Ali Zargar, Zubaida Rasool, Qurteeba Qadri
Background: Helicobacter pylori infection is recognised as type 1 carcinogen by the International Agency of Research on Cancer. Previous studies in our hospital have revealed high prevalence of H. pylori in our population with a high recurrence rate after completion of treatment. This prompted us to undertake this study. Aim: This study aimed to determine common gene mutations leading to resistance to clarithromycin, metronidazole, tetracycline and quinolones in H...
April 2018: Indian Journal of Medical Microbiology
Hazel Lote, Nicola Valeri, Ian Chau
Human epidermal growth factor receptor 2 (HER2)-inhibition is an important therapeutic strategy in HER2-amplified gastro-oesophageal cancer (GOC). A significant proportion of GOC patients display HER2 amplification, yet HER2 inhibition in these patients has not displayed the success seen in HER2 amplified breast cancer. Much of the current evidence surrounding HER2 has been obtained from studies in breast cancer, and we are only recently beginning to improve our understanding of HER2-amplified GOC. Whilst there are numerous licensed HER2 inhibitors in breast cancer, trastuzumab remains the only licensed HER2 inhibitor for HER2-amplified GOC...
July 15, 2018: World Journal of Gastrointestinal Oncology
Jessica Lee, Lindsay R Gubernick, Allison L Brodsky, Julia E Fehniger, Douglas A Levine, Deanna Gerber, Shabnam A Asgari, Anna Cantor, Jessica T Martineau, Ophira M Ginsburg, Julia A Smith, Bhavana Pothuri
OBJECTIVES: Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women. METHODS: All women diagnosed with EC between 2011 and 2016 were identified...
August 1, 2018: Gynecologic Oncology
Qizhi Liu, Yongming Yuan, Feng Zhu, Yunhan Hong, Ruowen Ge
Gene editing with CRISPR/Cas9 is a powerful tool to study the function of target genes. Although this technology has demonstrated wide efficiency in many species including fertilized zebrafish and medaka fish embryos when microinjected, its application to achieve efficient gene editing in cultured fish cells have met some difficulty. Here, we report an efficient and reliable approach to edit genes in cultured medaka ( Oryzias latipes ) fish cells using pre-formed gRNA-Cas9 ribonucleoprotein (RNP) complex. Both medaka fish haploid and diploid cells were transfected with the RNP complex by electroporation...
August 2, 2018: Biology Open
Masayuki Nagahashi, Seijiro Sato, Kizuki Yuza, Yoshifumi Shimada, Hiroshi Ichikawa, Satoshi Watanabe, Kazuki Takada, Tatsuro Okamoto, Shujiro Okuda, Stephen Lyle, Kazuaki Takabe, Masanori Tsuchida, Toshifumi Wakai
BACKGROUND: Recent progress in genomic analysis using next-generation sequencing technology has enabled the comprehensive detection of mutations and tumor mutation burden (TMB) in patients. A high TMB (TMB-H) tumor is defined as one with high somatic mutational rates, which correlates with clinical responses to certain treatments such as immunotherapies. We determined TMB in lung adenocarcinoma and clarified the characteristics of patients with TMB-H in relation to common driver mutations and smoking history...
July 30, 2018: Journal of Surgical Research
Angela Ballesteros, Cristina Fenollar-Ferrer, Kenton Jon Swartz
The hair cell mechanotransduction (MET) channel complex is essential for hearing, yet it's molecular identity and structure remain elusive. The transmembrane channel-like 1 (TMC1) protein localizes to the site of the MET channel, interacts with the tip-link responsible for mechanical gating, and genetic alterations in TMC1 alter MET channel properties and cause deafness, supporting the hypothesis that TMC1 forms the MET channel. We generated a model of TMC1 based on X-ray and cryo-EM structures of TMEM16 proteins, revealing the presence of a large cavity near the protein-lipid interface that also harbors the Beethoven mutation, suggesting that it could function as a permeation pathway...
July 31, 2018: ELife
Ugo Testa, Germana Castelli, Elvira Pelosi
Lung cancer causes the largest number of cancer-related deaths in the world. Most (85%) of lung cancers are classified as non-small-cell lung cancer (NSCLC) and small-cell lung cancer (15%) (SCLC). The 5-year survival rate for NSCLC patients remains very low (about 16% at 5 years). The two predominant NSCLC histological phenotypes are adenocarcinoma (ADC) and squamous cell carcinoma (LSQCC). ADCs display several recurrent genetic alterations, including: KRAS, BRAF and EGFR mutations; recurrent mutations and amplifications of several oncogenes, including ERBB2, MET, FGFR1 and FGFR2; fusion oncogenes involving ALK, ROS1, Neuregulin1 (NRG1) and RET...
July 27, 2018: Cancers
Rabab Rashwan, Julius F Varano Della Vergiliana, Sally M Lansley, Hui Min Cheah, Natalia Popowicz, James C Paton, Grant W Waterer, Tiffany Townsend, Ian Kay, Jeremy S Brown, Y C Gary Lee
Pleural infection/empyema is common and its incidence continues to rise. Streptococcus pneumoniae is the commonest bacterial cause of empyema in children and among the commonest in adults. The mesothelium represents the first line of defense against invading microorganisms, but mesothelial cell responses to common empyema pathogens, including S. pneumoniae, have seldom been studied. We assessed mesothelial cell viability in vitro following exposure to common empyema pathogens. Clinical isolates of S. pneumoniae from 25 patients with invasive pneumococcal disease and three reference strains were tested...
2018: PloS One
Ae Kyung Park, Pora Kim, Leomar Y Ballester, Yoshua Esquenazi, Zhongming Zhao
Background: A high heterogeneity and activation of multiple oncogenic pathways have been implicated in failure of targeted therapies in glioblastoma. Methods: Using TCGA data, we identified subtype-specific prognostic core genes by a combined approach of genome-wide Cox regression and Gene Set Enrichment Analysis. The results were validated with combined eight public datasets containing 608 glioblastomas. We further examined prognostic chromosome aberrations and mutations...
July 25, 2018: Neuro-oncology
Tamar C Brandler, Cheng Z Liu, Margaret Cho, Fang Zhou, Joan Cangiarella, Melissa Yee-Chang, Yan Shi, Aylin Simsir, Wei Sun
Objectives: Recognizing preoperative characteristics of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is important for clinical management. Therefore, we assessed presurgical NIFTP molecular profiles using fine-needle aspiration (FNA) material. Methods: Presurgical FNA reports of 39 surgically confirmed NIFTP cases from January 2013 through May 2017 were assessed for Afirma and ThyroSeq results. Results: Twenty-one of 39 NIFTP nodules were preoperatively tested with Afirma with two benign and 19 suspicious results...
July 25, 2018: American Journal of Clinical Pathology
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