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https://www.readbyqxmd.com/read/29141581/sanger-sequencing-in-exonic-regions-of-stk11-gene-uncovers-a-novel-de-novo-germline-mutation-c-962_963delcc-associated-with-peutz-jeghers-syndrome-and-elevated-cancer-risk-case-report-of-a-chinese-patient
#1
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun
BACKGROUND: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. CASE PRESENTATION: We reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members'. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29115420/construction-of-a-prognostic-prediction-system-for-pancreatic-ductal-adenocarcinoma-to-investigate-the-key-prognostic-genes
#2
Bingli Zheng, Jie Peng, Ablikim Mollayup, Ahmat Bakri, Lei Guo, Jianjiang Zheng, Hui Xu
Pancreatic cancer (PC) is associated with high mortality rates and poor prognoses. Pancreatic adenocarcinoma is the most common type of PC, and almost all cases of pancreatic adenocarcinoma are pancreatic ductal adenocarcinoma (PDAC). The aim of the current study was to reveal the genes involved in the prognosis of PDAC. Five datasets, including GSE71729 (145 PDAC samples and 46 normal samples), GSE15471 (39 PDAC samples and 39 normal samples), GSE1542 (24 PDAC samples and 25 normal samples), GSE28735 (45 PDAC samples and 45 normal samples) and GSE62452 (69 PDAC samples and 69 normal samples) were downloaded from the Gene Expression Omnibus database...
October 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29110857/inter-relationship-between-pd-l1-expression-and-clinic-pathological-features-and-driver-gene-mutations-in-pulmonary-sarcomatoid-carcinomas
#3
Filippo Lococo, Federica Torricelli, Giulio Rossi, Marco Alifano, Diane Damotte, Cristian Rapicetta, Ione Tamagnini, Alberto Cavazza, Simonetta Piana, Carla Galeone, Massimiliano Paci, Alessia Ciarrocchi
INTRODUCTION: Pulmonary Sarcomatoid Carcinoma (PSC) is a rare subset of NSCLC, associated with worse prognosis and resistant to platinum-based regimens. Recent investigations have shown high levels of PD-L1 expression in PSC, providing a rationale for the potential use of immunotherapy. In this study, we investigated whether the PD-L1 expression was related to clinico-pathologic and molecular characteristics. MATERIALS AND METHODS: Fortythree surgically-resected PSCs were selected from 2006 to 2014 and clinical information retrieved...
November 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29089812/papillary-thyroid-carcinoma-in-a-boy-with-familial-tuberous-sclerosis-complex-attributable-to-a-tsc2-deletion-a-case-report
#4
M Flader, P Kurzawa, J Maldyk, J Sygut, J Harasymczuk, A Kropinska, D Handkiewicz-Junak, B Jarzab, K Kotulska, M Niedziela
Tuberous sclerosis complex (tsc), a phacomatosis, is a rare genetic disease (autosomal dominant; incidence: 1 in 6,800-17,300) associated with mutations in the TSC1 and TSC2 genes, 70% of which are sporadic. The disease causes benign tumours in the brain, kidneys, heart, lungs, skin, and eyes; thyroid lesions are extremely rare. A 13-year-old euthyroid boy with a hereditary form of tsc (del 4730G in TSC2, also seen in 2 sisters and the father) was admitted to hospital with a thyroid nodule. Physical examination revealed a nodular left lobe with increased consistency...
October 2017: Current Oncology
https://www.readbyqxmd.com/read/29089357/effects-of-co-occurring-genomic-alterations-on-outcomes-in-patients-with-kras-mutant-non-small-cell-lung-cancer
#5
Kathryn C Arbour, Emmet J Jordan, Hyunjae Ryan Kim, Jordan Dienstag, Helena Yu, Francisco Sanchez-Vega, Piro Lito, Michael F Berger, David B Solit, Matthew D Hellmann, Mark G Kris, Charles M Rudin, Andy Ni, Maria E Arcila, Marc Ladanyi, Gregory J Riely
BACKGROUND: KRAS mutations occur in approximately 25% of patients with non-small cell lung cancer (NSCLC).  Despite the uniform presence of KRAS mutations, patients with KRAS-mutant NSCLC can have a heterogeneous clinical course. Since the pattern of co-occurring mutations may describe different biological subsets of patients with KRAS-mutant lung adenocarcinoma, we explored the effects of co-occurring mutations on patient outcomes and response to therapy. METHODS: We identified patients with advanced KRAS-mutant NSCLC and evaluated the most common co-occurring genomic alterations...
October 31, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29084199/class-iii-phosphatidylinositol-3-oh-kinase-controls-epithelial-integrity-through-endosomal-lkb1-regulation
#6
Fergal O'Farrell, Viola Hélène Lobert, Marte Sneeggen, Ashish Jain, Nadja Sandra Katheder, Eva Maria Wenzel, Sebastian Wolfgang Schultz, Kia Wee Tan, Andreas Brech, Harald Stenmark, Tor Erik Rusten
The molecular mechanisms underlying the interdependence between intracellular trafficking and epithelial cell polarity are poorly understood. Here we show that inactivation of class III phosphatidylinositol-3-OH kinase (CIII-PI3K), which produces phosphatidylinositol-3-phosphate (PtdIns3P) on endosomes, disrupts epithelial organization. This is caused by dysregulation of endosomally localized Liver Kinase B1 (LKB1, also known as STK11), which shows delocalized and increased activity accompanied by dysplasia-like growth and invasive behaviour of cells provoked by JNK pathway activation...
October 30, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/29066508/molecular-subtypes-of-pulmonary-large-cell-neuroendocrine-carcinoma-predict-chemotherapy-treatment-outcome
#7
Jules Derks, Noémie Leblay, Erik Thunnissen, Robert Jan van Suylen, Michael den Bakker, Harry Jm Groen, Egbert F Smit, Ronald Damhuis, Esther C van den Broek, Amelie Chabrier, Matthieu Foll, James D McKay, Lynnette Fernandez-Cuesta, Ernst-Jan M Speel, Anne-Marie C Dingemans
PURPOSE: Previous genomic studies have identified two mutually exclusive molecular subtypes of large-cell neuroendocrine carcinoma (LCNEC): the RB1 mutated (mostly co-mutated with TP53) and the RB1 wild-type groups. We assessed if these subtypes have a predictive value on chemotherapy outcome. EXPERIMENTAL DESIGN: Clinical data and tumor specimens were retrospectively obtained from the Netherlands Cancer Registry and Pathology Registry. Panel-consensus pathology revision confirmed the diagnosis of LCNEC in 148 of 232 cases...
October 24, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29053726/prevalence-of-deleterious-germline-variants-in-risk-genes-including-brca1-2-in-consecutive-ovarian-cancer-patients-ago-tr-1
#8
Philipp Harter, Jan Hauke, Florian Heitz, Alexander Reuss, Stefan Kommoss, Frederik Marmé, André Heimbach, Katharina Prieske, Lisa Richters, Alexander Burges, Guido Neidhardt, Nikolaus de Gregorio, Ahmed El-Balat, Felix Hilpert, Werner Meier, Rainer Kimmig, Karin Kast, Jalid Sehouli, Klaus Baumann, Christian Jackisch, Tjoung-Won Park-Simon, Lars Hanker, Sandra Kröber, Jacobus Pfisterer, Heidrun Gevensleben, Andreas Schnelzer, Dimo Dietrich, Tanja Neunhöffer, Mathias Krockenberger, Sara Y Brucker, Peter Nürnberg, Holger Thiele, Janine Altmüller, Josefin Lamla, Gabriele Elser, Andreas du Bois, Eric Hahnen, Rita Schmutzler
BACKGROUND: Identification of families at risk for ovarian cancer offers the opportunity to consider prophylactic surgery thus reducing ovarian cancer mortality. So far, identification of potentially affected families in Germany was solely performed via family history and numbers of affected family members with breast or ovarian cancer. However, neither the prevalence of deleterious variants in BRCA1/2 in ovarian cancer in Germany nor the reliability of family history as trigger for genetic counselling has ever been evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/29043114/expression-of-stk11-gene-and-its-promoter-activity-in-mcf-control-and-cancer-cells
#9
Asma Alkaf, Abdulaziz Al-Jafari, Tanveer A Wani, Somaya Alqattan, Seema Zargar
Serine/threonine kinase gene (STK11) is identified as tumor suppressor gene whose mutation can lead to Peutz-Jeghers syndrome (PJS). STK11 is emerging as a multifunctional protein, it activates 14 different AMP-activated protein kinase (AMPK) family members, important in the regulation of cell polarity, cell cycle arrest, energy and hemostasis. Present study was designed to evaluate STK11 mRNA expression in MCF-7 cancer and MCF-10 normal breast cells lines. mRNA expression was studied by real-time PCR. Further, human STK11 promoter construct was fused to a luciferase reporter and transfected into both MCF-7 and MCF-10 cells to identify the promoter activity in these cells...
December 2017: 3 Biotech
https://www.readbyqxmd.com/read/28986664/a-23-nucleotide-deletion-in-stk11-gene-causes-peutz-jeghers-syndrome-and-malignancy-in-a-chinese-patient-without-a-positive-family-history
#10
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun
BACKGROUND AND AIMS: Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disease caused by mutations in the tumor suppressor gene, STK11, which is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing both gastrointestinal and extraintestinal malignancies. METHODS AND RESULTS: We treated a PJS patient without a positive family history, who possessed typical clinical manifestations including polyp canceration...
November 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28976799/wipi-%C3%AE-propellers-function-as-scaffolds-for-stk11-lkb1-ampk-and-ampk-related-kinase-signaling-in-autophagy
#11
Daniela Bakula, Amelie J Mueller, Tassula Proikas-Cezanne
The article discusses new findings on the role of the 4 human WIPI proteins at the onset of macroautophagy/autophagy. New insights revealing a circuit scaffold function of WIPI β-propellers that interconnect autophagy signaling control with appropriate autophagosome formation are summarized.
October 4, 2017: Autophagy
https://www.readbyqxmd.com/read/28936567/metformin-as-a-repurposed-therapy-in-advanced-non-small-cell-lung-cancer-nsclc-results-of-a-phase-ii-trial
#12
Anish B Parikh, Peter Kozuch, Nicholas Rohs, Daniel J Becker, Benjamin P Levy
Background Metformin has been shown to have anti-neoplastic activity in non-small cell lung cancer (NSCLC) in both preclinical and observational studies, however this has never been prospectively evaluated. This single-arm phase II trial, while not fully accrued, is the first known prospective study evaluating the use of metformin with chemotherapy in advanced NSCLC. Methods Patients received carboplatin AUC 5 + pemetrexed 500 mg/m2 IV every 21 days for 4 cycles. For patients who achieved at least stable disease, maintenance pemetrexed was administered until progression or toxicity...
September 22, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28927054/methylation-of-stk11-promoter-is-a-risk-factor-for-tumor-stage-and-survival-in-clear-cell-renal-cell-carcinoma
#13
Fufu Zheng, Xiaoxu Yuan, Enjing Chen, Yunlin Ye, Xiaofei Li, Yuping Dai
Inactivation of tumor suppressor gene serine-threonine kinase 11 (STK11) in clear cell renal cell carcinoma (ccRCC) has been demonstrated; however, the mechanism of this inactivation remains to be investigated. To investigate whether epigenetic alteration plays a role in the inactivation of STK11 in RCC, the present study aimed to investigate the methylation status of the STK11 promoter and its association with tumor stage and survival in ccRCC patients. Paraffin-embedded specimens were obtained from 42 ccRCC patients...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28921546/neuroblastoma-cells-undergo-transcriptomic-alterations-upon-dissemination-into-the-bone-marrow-and-subsequent-tumor-progression
#14
Fikret Rifatbegovic, Christian Frech, M Reza Abbasi, Sabine Taschner-Mandl, Tamara Weiss, Wolfgang M Schmidt, Iris Schmidt, Ruth Ladenstein, Inge M Ambros, Peter F Ambros
Neuroblastoma is the most common extracranial solid tumor in childhood. The vast majority of metastatic (M) stage patients present with disseminated tumor cells (DTCs) in the bone marrow (BM) at diagnosis and relapse. Although these cells represent a major obstacle in the treatment of neuroblastoma patients, insights into their expression profile remained elusive. The present RNA-Seq study of stage 4/M primary tumors, enriched BM-derived diagnostic and relapse DTCs, as well as the corresponding BM-derived mononuclear cells (MNCs) from 53 patients revealed 322 differentially expressed genes in DTCs as compared to the tumors (q < 0...
September 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28914263/coexistent-genetic-alterations-involving-alk-ret-ros1-or-met-in-15-cases-of-lung-adenocarcinoma
#15
Zhenya Tang, Jianjun Zhang, Xinyan Lu, Wei Wang, Hui Chen, Melissa K Robinson, Joanne Cheng, Guilin Tang, L Jeffrey Medeiros
In lung cancer, targetable activating alterations in cancer genes, such as EGFR, ALK, RET, ROS1 and MET, are usually mutually exclusive. Rare lung cancer cases with coexistent alterations of EGFR and ALK or EGFR mutations with RET or ROS1 rearrangements have been reported. In this study, we report 15 patients (3 men and 12 women; 14 Caucasians and 1 African American) with ages ranging from 43 to 81 years (median 60 years) with lung adenocarcinoma in which coexistent alterations of two cancer-associated genes, including ALK, ROS1, or RET rearrangement or MET amplification were present...
September 15, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28911955/somatic-mutations-and-ancestry-markers-in-hispanic-lung-cancer-patients
#16
Nicholas T Gimbrone, Bhaswati Sarcar, Edna R Gordian, Jason I Rivera, Christian Lopez, Sean J Yoder, Jamie K Teer, Eric A Welsh, Alberto A Chiappori, Matthew B Schabath, Gary W Reuther, Julie Dutil, Miosotis Garcia, Ronald Ventosilla-Villanueva, Luis Vera-Valdivia, Alejandro Yabar-Berrocal, Rodrigo Motta-Guerrero, Pedro G Santiago-Cardona, Teresita Muñoz-Antonia, W Douglas Cress
INTRODUCTION: To address the lack of genomic data from Hispanic/Latino (H/L) patients with lung cancer, the Latino Lung Cancer Registry was established to collect patient data and biospecimens from H/L patients. METHODS: This retrospective observational study examined lung cancer tumor samples from 163 H/L patients, and tumor-derived DNA was subjected to targeted-exome sequencing (>1000 genes, including EGFR, KRAS, serine/threonine kinase 11 gene [STK11], and tumor protein p53 gene [TP53]) and ancestry analysis...
September 11, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28900777/an-exploration-of-genotype-phenotype-link-between-peutz-jeghers-syndrome-and-stk11-a-review
#17
REVIEW
Julian Daniell, John-Paul Plazzer, Anuradha Perera, Finlay Macrae
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy...
September 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28891274/breast-cancer-risk-and-germline-genomic-profiling-of-women-with-neurofibromatosis-type-1-who-developed-breast-cancer
#18
Xia Wang, Jamie K Teer, Renee N Tousignant, Albert M Levin, David Boulware, Dhananjay A Chitale, Brandon M Shaw, Zhihua Chen, Yonghong Zhang, Jaishri O Blakeley, Maria T Acosta, Ludwine M Messiaen, Bruce R Korf, Michael A Tainsky
NF1 mutations predispose to neurofibromatosis type 1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exome sequencing (WES), targeted genomic DNA based and RNA-based analysis of the NF1 gene...
September 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28884744/pulmonary-large-cell-neuroendocrine-carcinoma-with-adenocarcinoma-like-features-napsin-a-expression-and-genomic-alterations
#19
Natasha Rekhtman, Catherine M Pietanza, Joshua Sabari, Joseph Montecalvo, Hangjun Wang, Omar Habeeb, Kyuichi Kadota, Prasad Adusumilli, Charles M Rudin, Marc Ladanyi, William D Travis, Philippe Joubert
Pulmonary large cell neuroendocrine carcinoma (LCNEC) is a highly aggressive malignancy, which was recently found to comprise three major genomic subsets: small cell carcinoma-like, non-small cell carcinoma (predominantly adenocarcinoma)-like, and carcinoid-like. To further characterize adenocarcinoma-like subset, here we analyzed the expression of exocrine marker napsin A, along with TTF-1, in a large series of LCNECs (n=112), and performed detailed clinicopathologic and genomic analysis of napsin A-positive cases...
September 8, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28870692/distinct-patterns-of-acral-melanoma-based-on-site-and-relative-sun-exposure
#20
Alexandra M Haugh, Bin Zhang, Victor L Quan, Erin M Garfield, Jeffrey A Bubley, Emily Kudalkar, Anna Elisa Verzi, Kara Walton, Timothy VandenBoom, Emily A Merkel, Christina Y Lee, Timothy Tan, Maria Cristina Isales, Betty Y Kong, Alexander T Wenzel, Christopher G Bunick, Jaehyuk Choi, Jeffrey Sosman, Pedram Gerami
Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n=21), volar (n=9), and subungual/interdigital (n=13) acral skin as well as acral nevi (n=24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared to volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (p=...
September 1, 2017: Journal of Investigative Dermatology
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