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https://www.readbyqxmd.com/read/28222336/a-two-step-approach-for-sequencing-spliceosome-related-genes-as-a-complementary-diagnostic-assay-in-mds-patients-with-ringed-sideroblasts
#1
Kamila Janusz, Mónica Del Rey, María Abáigar, Rosa Collado, David Ivars, María Hernández-Sánchez, Alberto Valiente, Cristina Robledo, Rocío Benito, María Díez-Campelo, Fernando Ramos, Alexander Kohlmann, Consuelo Del Cañizo, Jesús María Hernández-Rivas
Our study aimed to analyze the presence of mutations in SF3B1 and other spliceosome-related genes in myelodysplastic syndromes with ringed sideroblasts (MDS-RS) by combining conventional Sanger and next-generation sequencing (NGS) methods, and to determine the feasibility of this approach in a clinical setting. 122 bone marrow samples from MDS-RS patients were studied. Initially, exons 14 and 15 of the SF3B1 gene were analyzed by Sanger sequencing. Secondly, they were studied by NGS covering besides SF3B1, SRSF2, U2AF1 and ZRSR2 genes...
February 4, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28220743/analysis-of-mutations-causing-familial-hypercholesterolaemia-in-black-south-african-patients-of-different-ancestr
#2
U K Ibe, R Whittall, S E Humphries, G Pilcher, F Raal
BACKGROUND: Familial hypercholesterolaemia (FH) is usually caused by mutations in three genes (LDLR, APOB and PCSK9). OBJECTIVE: To identify the spectrum of FH-causing mutations in black South African (SA) patients. METHODS: DNA samples of 16 unrelated South African FH patients with elevated low-density lipoprotein cholesterol levels, tendon xanthomas and corneal arcus (3 clinically homozygous FH and 13 heterozygous FH) of ethnic African origin were screened for mutations in the LDLR (coding region, promoter and intron/exon boundaries), APOB (part of exon 26) and PCSK9 genes (exon 7), using high-resolution melting...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28220630/clinical-value-of-the-new-international-association-for-the-study-of-lung-cancer-american-thoracic-society-european-respiratory-society-classification-of-lung-adenocarcinoma
#3
Ziwei Guo, Fumei Yi, Wencheng Yin, Yu Zhang, Qian Li, Yangchun Gu, Yu Xiao, Baoshan Cao, Liwen Ma, Li Liang
BACKGROUND: We explored correlations between the new International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society classification, epidermal growth factor receptor (EGFR) mutation status, and prognosis. METHODS: Data from 293 patients with lung adenocarcinoma were classified according to the new classification. Fisher's exact, χ(2) , and log-rank tests and Cox regression analysis were used to analyze correlations between EGFR mutation status, lung cancer prognosis, and the new histologic subtype...
February 21, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28212996/analysis-of-a-panel-of-druggable-gene-mutations-and-of-alk-and-pd-l1-expression-in-a-series-of-thymic-epithelial-tumors-tets
#4
Marcello Tiseo, Angela Damato, Lucia Longo, Fausto Barbieri, Federica Bertolini, Alessandro Stefani, Mario Migaldi, Letizia Gnetti, Roberta Camisa, Paola Bordi, Sebastiano Buti, Giulio Rossi
INTRODUCTION: Thymic epithelial tumors (TETs) are rare neoplasms with different prognosis lacking consistent molecular alterations possibly leading to targeted therapy. We collected a consecutive series of TETs aimed at investigating the mutational status of druggable genes (EGFR, c-KIT, KRAS, BRAF, PDGFR-alpha and -beta, HER2 and c-MET) and the expression of ALK and PD-L1. PATIENTS AND METHODS: One hundred twelve consecutive cases of TETs and relative clinico-pathologic features were collected...
February 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28209747/pediatric-adolescent-and-young-adult-thyroid-carcinoma-harbors-frequent-and-diverse-targetable-genomic-alterations-including-kinase-fusions
#5
Pierre Vanden Borre, Alexa B Schrock, Peter M Anderson, John C Morris, Andreas M Heilmann, Oliver Holmes, Kai Wang, Adrienne Johnson, Steven G Waguespack, Sai-Hong Ignatius Ou, Saad Khan, Kar-Ming Fung, Philip J Stephens, Rachel L Erlich, Vincent A Miller, Jeffrey S Ross, Siraj M Ali
BACKGROUND: Thyroid carcinoma, which is rare in pediatric patients (age 0-18 years) but more common in adolescent and young adult (AYA) patients (age 15-39 years), carries the potential for morbidity and mortality. METHODS: Hybrid-capture-based comprehensive genomic profiling (CGP) was performed prospectively on 512 consecutively submitted thyroid carcinomas, including 58 from pediatric and AYA (PAYA) patients, to identify genomic alterations (GAs), including base substitutions, insertions/deletions, copy number alterations, and rearrangements...
February 16, 2017: Oncologist
https://www.readbyqxmd.com/read/28205367/multiplex-ligation-dependent-probe-amplification-as-first-mutation-screening-for-large-deletions-and-duplications-in-haemophilia
#6
D Belvini, R Salviato, P Radossi, G Tagariello
INTRODUCTION: Molecular characterization has shown a wide mutational spectrum underlying haemophilia A (HA) and haemophilia B (HB). Different molecular assays have allowed laboratories to perform genetic testing for F8 and F9 mutations. AIM: Recently, multiplex ligation-dependent probe amplification (MLPA), a simple technique for relative quantitation of targeted genomic regions, has been introduced in HA and HB for detection of large deletions and duplications...
February 15, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28185061/a-regional-analysis-of-epidermal-growth-factor-receptor-egfr-mutated-lung-cancer-for-hse-south
#7
D Kelly, L Mc Sorley, E O'Shea, E Mc Carthy, S Bowe, C Brady, J Sui, M A Dawod, O O'Brien, D Graham, J McCarthy, L Burke, D Power, S O'Reilly, R M Bambury, D O Mahony
BACKGROUND: EGFR mutated lung cancer represents a subgroup with distinct clinical presentations, prognosis, and management requirements. We investigated the survival, prognostic factors, and real-world treatment of NSCLC patients with EGFR mutation in clinical practice. METHODS: A retrospective review of all specimens sent for EGFR analysis from December 2009 to September 2015 was performed. Patient demographics, specimen type, EGFR mutation status/type, stage at diagnosis, treatment, response rate, and survival data were recorded...
February 9, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28173668/-epidermal-growth-factor-receptor-egfr-mutation-status-before-and-after-acquired-resistance-to-egfr-tyrosine-kinase-inhibitors-in-patients-with-lung-adenocarcinoma
#8
S B Ye, R Li, S S Shi
Objective: To investigate epidermal growth factor receptor (EGFR) mutation status in lung adenocarcinomas before and after acquiring resistance to EGFR tyrosine kinase inhibitors (TKIs) using ARMS method followed by further verification using droplet digital PCR technique. Methods: Twenty qualified patients were included, among them 13 were male and 7 were female patients. Before EGFR-TKIs treatment, 5 patients were EGFR wild-type by ARMS, and the other 15 patients had L858R or 19-del point mutations. The time to progression varied from 4 to 18 months...
February 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28168310/evaluation-of-gefitinib-efficacy-according-to-body-mass-index-body-surface-area-and-body-weight-in-patients-with-egfr-mutated-advanced-non-small-cell-lung-cancer
#9
Hisao Imai, Tomohito Kuwako, Kyoichi Kaira, Tomomi Masuda, Yosuke Miura, Kaori Seki, Reiko Sakurai, Mitsuyoshi Utsugi, Kimihiro Shimizu, Noriaki Sunaga, Yoshio Tomizawa, Shinichi Ishihara, Takao Ishizuka, Akira Mogi, Takeshi Hisada, Koichi Minato, Atsushi Takise, Ryusei Saito, Masanobu Yamada
PURPOSE: In patients with epidermal growth factor receptor (EGFR)-mutated, advanced, non-small cell lung cancer (NSCLC), common gefitinib-sensitive EGFR mutations that predict a greater response to therapy include the exon 19 deletion and L858R point mutation. The objective of this study was to evaluate whether body surface area (BSA), body weight (BW), and body mass index (BMI) affect gefitinib efficacy in such patients. METHODS: The medical charts of 138 consecutive patients with advanced NSCLC harboring sensitive EGFR mutations, who underwent gefitinib treatment, were reviewed...
February 6, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28162944/epidermal-growth-factor-receptor-egfr-mutation-in-exon-19-p-e749q-confers-resistance-to-gefitinib-in-one-patient-with-lung-adenocarcinoma
#10
Giovenzio Genestreti, Dario de Biase, Monica Di Battista, Giovanna Cavallo, Roberta Degli Esposti, Michela Visani, Giorgia Acquaviva, Thomas Brand, Annalisa Pession, Giovanni Tallini, Alba A Brandes
No abstract text is available yet for this article.
January 11, 2017: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28151491/clinical-and-molecular-consequences-of-disease-associated-de-novo-mutations-in-satb2
#11
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, Ddd Study, David R FitzPatrick
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein...
February 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28134923/transforming-growth-factor-%C3%AE-1-functional-polymorphisms-in-myeloablative-sibling-hematopoietic-stem-cell-transplantation
#12
M Berro, M V Palau Nagore, M M Rivas, P Longo, C Foncuberta, A Vitriú, G Remaggi, J Martínez Rolon, G Jaimovich, A Requejo, L Feldman, K Padros, M B Rodríguez, B E Shaw, I Larripa, C B Belli, G D Kusminsky
Hematopoietic stem cell transplantation (HSCT) with sibling donors (s.d.) is a life-saving intervention for patients with hematological malignancies. Numerous genetic factors have a role in transplant outcome. Several functional polymorphisms have been identified in TGF-β1 gene, such as single-nucleotide polymorphism (SNP) at +29C>T within exon 1. Two hundred and forty five patient/donor pairs who underwent a s.d. HSCT in our centers were genotyped for this SNP. In the myeloablative cohort, +29CC donors were associated with an increase in severe chronic GvHD (32% vs 16%, hazard ratio (HR) 9...
January 30, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28133886/somatic-snps-of-the-brca2-gene-at-the-fragments-encoding-rad51-binding-sites-of-canine-mammary-tumors
#13
O Ozmen, S Kul, A Risvanli, G Ozalp, A Sabuncu, O Kul
Mammary tumors are the most common tumor type both in women and in female dogs. In women, heritable breast cancers have been linked mutations in the breast cancer susceptibility gene BRCA2 and it contains eight BRC repeats in exon 11 that bind to RAD51. In this study, we investigated the sequence variations of BRC1-BRC8 and C-terminus of canine BRCA2 gene. From a total of 64 canine patients with mammary tumors, 31 mammary tumors with benign and malign carcinomas and the 3 normal mammary glands were used for the study...
January 30, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28128193/the-utility-of-thyroid-transcription-factor-1-ttf-1-napsin-a-excision-repair-cross-complementing-1-ercc1-anaplastic-lymphoma-kinase-alk-and-the-epidermal-growth-factor-receptor-egfr-expression-in-small-biopsy-in-prognosis-of-patients-with-lung-adenocarcinoma
#14
Marina Piljić Burazer, Suzana Mladinov, Vesna Ćapkun, Sendi Kuret, Merica Glavina Durdov
BACKGROUND The present study was carried out in order to evaluate our institutional experience with small biopsy in diagnosis and molecular testing of lung adenocarcinoma. Few specific and predictive markers have been evaluated and correlated with clinicopathologic characteristics and survival in patients with lung adenocarcinoma who received platinum-based chemotherapy. There have not been such reports from Croatia. MATERIAL AND METHODS A total of 142 cases of lung adenocarcinoma were retrospectively investigated in small biopsies for the immunohistochemical expression of TTF-1, napsin A, ERCC1, ALK, and the EGFR mutation by real-time polymerase chain reaction (rtPCR)...
January 27, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28127432/pulmonary-micropapillary-type-adenosquamous-carcinoma-sharing-epidermal-growth-factor-receptor-mutation-in-adenocarcinoma-and-squamous-cell-carcinoma
#15
Yusuke Takanashi, Shogo Tajima, Takamitsu Hayakawa, Tsuyoshi Takahashi, Hiroshi Neyatani, Kazuhito Funai
Adenosquamous lung carcinoma (AdSqLC) has a worse prognosis than adenocarcinoma (ADC) or squamous cell carcinoma (SQCC). Micropapillary pattern in lung ADC is an additional poor prognostic factor. We describe a rare case of AdSqLC with epidermal growth factor receptor (EGFR) mutation in both the micropapillary-ADC and SQCC components, showing long-term response to gefitinib. A 60-year-old woman underwent right lower lobectomy for primary lung cancer. Histopathological examination demonstrated adenosquamous carcinoma comprising micropapillary-ADC and moderately differentiated SQCC...
September 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/28125085/the-next-generation-of-population-based-spinal-muscular-atrophy-carrier-screening-comprehensive-pan-ethnic-smn1-copy-number-and-sequence-variant-analysis-by-massively-parallel-sequencing
#16
Yanming Feng, Xiaoyan Ge, Linyan Meng, Jennifer Scull, Jianli Li, Xia Tian, Tao Zhang, Weihong Jin, Hanyin Cheng, Xia Wang, Mari Tokita, Pengfei Liu, Hui Mei, Yue Wang, Fangyuan Li, Eric S Schmitt, Wei V Zhang, Donna Muzny, Shu Wen, Zhao Chen, Yaping Yang, Arthur L Beaudet, Xiaoming Liu, Christine M Eng, Fan Xia, Lee-Jun Wong, Jinglan Zhang
PURPOSE: To investigate pan-ethnic SMN1 copy-number and sequence variation by hybridization-based target enrichment coupled with massively parallel sequencing or next-generation sequencing (NGS). METHODS: NGS reads aligned to SMN1 and SMN2 exon 7 were quantified to determine the total combined copy number of SMN1 and SMN2. The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that distinguishes the two genes. SMN1 copy-number results were compared between the NGS and quantitative polymerase chain reaction and/or multiplex ligation-dependent probe amplification...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28123539/bilateral-ovarian-carcinomas-differ-in-the-expression-of-metastasis-related-genes
#17
Marianne Lislerud Smebye, Lisbeth Haugom, Ben Davidson, Claes Göran Trope, Sverre Heim, Rolf Inge Skotheim, Francesca Micci
The mechanisms behind bilaterality of ovarian carcinomas are not fully understood, as the two tumors could possibly represent two primary tumors, a primary tumor and a metastasis, or two metastases. The gene expression profiles from bilateral high-grade serous carcinomas (HGSCs) and clear cell carcinomas (CCCs) of the ovary were compared to study the association between the tumors of the two sides. A separate analysis of genes from chromosome 19 was also performed, since this chromosome is frequently rearranged in ovarian carcinomas...
January 2017: Oncology Letters
https://www.readbyqxmd.com/read/28123305/clinical-outcomes-of-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitors-in-recurrent-adenosquamous-carcinoma-of-the-lung-after-resection
#18
Liwen Fan, Haitang Yang, Feng Yao, Yang Zhao, Haiyong Gu, Ke Han, Heng Zhao
PURPOSE: The therapeutic efficacy of targeted therapy for adenosquamous carcinoma (ASC) of the lung remains unclear and the role of epidermal growth factor receptor (EGFR) testing in patients with ASC also remains controversial. We aimed to analyze the efficacy of EGFR tyrosine kinase inhibitors (EGFR-TKIs) in ASC. METHODS: Clinical records of patients with ASC who received treatment with EGFR-TKIs between January 2006 and December 2014 at two institutions were retrospectively reviewed...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28122634/integrated-genome-wide-analysis-of-expression-quantitative-trait-loci-aids-interpretation-of-genomic-association-studies
#19
Roby Joehanes, Xiaoling Zhang, Tianxiao Huan, Chen Yao, Sai-Xia Ying, Quang Tri Nguyen, Cumhur Yusuf Demirkale, Michael L Feolo, Nataliya R Sharopova, Anne Sturcke, Alejandro A Schäffer, Nancy Heard-Costa, Han Chen, Po-Ching Liu, Richard Wang, Kimberly A Woodhouse, Kahraman Tanriverdi, Jane E Freedman, Nalini Raghavachari, Josée Dupuis, Andrew D Johnson, Christopher J O'Donnell, Daniel Levy, Peter J Munson
BACKGROUND: Identification of single nucleotide polymorphisms (SNPs) associated with gene expression levels, known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role of phenotype-associated SNPs in genome-wide association studies (GWAS). The small sample sizes of some previous eQTL studies have limited their statistical power. We conducted an eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals, exceeding the single cohort size of previous studies by more than a factor of 2...
January 25, 2017: Genome Biology
https://www.readbyqxmd.com/read/28113019/management-of-brain-metastases-in-tyrosine-kinase-inhibitor-na%C3%A3-ve-epidermal-growth-factor-receptor-mutant-non-small-cell-lung-cancer-a-retrospective-multi-institutional-analysis
#20
William J Magnuson, Nataniel H Lester-Coll, Abraham J Wu, T Jonathan Yang, Natalie A Lockney, Naamit K Gerber, Kathryn Beal, Arya Amini, Tejas Patil, Brian D Kavanagh, D Ross Camidge, Steven E Braunstein, Lauren C Boreta, Suresh K Balasubramanian, Manmeet S Ahluwalia, Niteshkumar G Rana, Albert Attia, Scott N Gettinger, Joseph N Contessa, James B Yu, Veronica L Chiang
Purpose Stereotactic radiosurgery (SRS), whole-brain radiotherapy (WBRT), and epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) are treatment options for brain metastases in patients with EGFR-mutant non-small-cell lung cancer (NSCLC). This multi-institutional analysis sought to determine the optimal management of patients with EGFR-mutant NSCLC who develop brain metastases and have not received EGFR-TKI. Materials and Methods A total of 351 patients from six institutions with EGFR-mutant NSCLC developed brain metastases and met inclusion criteria for the study...
January 23, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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