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Medical Genetics, Human Genetics, Cancers

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https://www.readbyqxmd.com/read/28293027/genetics-of-primary-sclerosing-cholangitis-and-pathophysiological-implications
#1
REVIEW
Xiaojun Jiang, Tom H Karlsen
Primary sclerosing cholangitis (PSC) is a chronic disease leading to fibrotic scarring of the intrahepatic and extrahepatic bile ducts, causing considerable morbidity and mortality via the development of cholestatic liver cirrhosis, concurrent IBD and a high risk of bile duct cancer. Expectations have been high that genetic studies would determine key factors in PSC pathogenesis to support the development of effective medical therapies. Through the application of genome-wide association studies, a large number of disease susceptibility genes have been identified...
March 15, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28274107/pathophysiology-and-management-of-alcoholic-liver-disease-update-2016
#2
REVIEW
Felix Stickel, Christian Datz, Jochen Hampe, Ramon Bataller
Alcoholic liver disease (ALD) is a leading cause of cirrhosis, liver cancer, and acute and chronic liver failure and as such causes significant morbidity and mortality. While alcohol consumption is slightly decreasing in several European countries, it is rising in others and remains high in many countries around the world. The pathophysiology of ALD is still incompletely understood but relates largely to the direct toxic effects of alcohol and its main intermediate, acetaldehyde. Recently, novel putative mechanisms have been identified in systematic scans covering the entire human genome and raise new hypotheses on previously unknown pathways...
March 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28223668/-genetic-counseling-of-hboc-and-japanese-organization-of-hboc
#3
Yoshimitsu Fukushima
Genetic testing, which reveals germline mutations, is extremely important for HBOC patients and their families. The evolution of this field has created a need for accurate cancer genetic counseling and risk assessment. Prevention and early therapy are possible in HBOC. If a patient has BRCA1 or BRCA2 mutations, the at-risk relatives should receive the information through genetic counseling. Genetic counseling provides not only information but also psychological and social support so that the patient or subject can autonomously decide...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28211039/cutaneous-squamous-cell-carcinoma-an-epidemiological-review
#4
REVIEW
A C Green, C M Olsen
Cutaneous squamous cell carcinoma (SCC) is a common cancer in white populations and its disease burden is often substantially underestimated. SCC occurs more often in men than women and increases dramatically with age; those affected often develop multiple primaries over time, which increases the burden. The main external cause is solar ultraviolet radiation (UVR), with immunosuppression being the other established risk factor, shown by the high SCC rates in organ transplant recipients. Sunbed use and certain genetic disorders and medical conditions are also associated with SCC, while associations with human papillomavirus infection and high bodyweight are not established...
February 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28179634/rapid-and-cost-effective-high-throughput-sequencing-for-identification-of-germline-mutations-of-brca1-and-brca2
#5
Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, Kazuyoshi Hosomichi, Hua You, Emi Utsuno, Takafumi Sangai, Motoi Nishimura, Kazuyuki Matsushita, Akira Hata, Fumio Nomura, Ituro Inoue
Genetic testing for breast cancer predisposing genes, BRCA1 and BRCA2, can take advantage for early identification of carriers with pathogenic germline mutations. However, conventional approaches based on Sanger sequencing are laborious and expensive. Next-generation sequencing technology has a great impact on investigation of medical genomics and now applied clinical genetics. We provide a protocol based on a pool and capture method followed by high-throughput sequencing, which realizes a rapid, high-quality, high-accuracy and low-cost testing for mutations in BRCA1 and BRCA2 by using small amounts of input DNA...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28150817/association-of-genomic-instability-with-hba1c-levels-and-medication-in-diabetic-patients
#6
Annemarie Grindel, Helmut Brath, Armen Nersesyan, Siegfried Knasmueller, Karl-Heinz Wagner
Diabetes Mellitus type 2 (DM2) is associated with increased cancer risk. Instability of the genetic material plays a key role in the aetiology of human cancer. This study aimed to analyse genomic instability with the micronucleus cytome assay in exfoliated buccal cells depending on glycated haemoglobin (HbA1c) levels and medication in 146 female DM2 patients. The occurrence of micronuclei was significantly increased in DM2 patients compared to healthy controls. Furthermore, it was doubled in DM2 patients with HbA1c > 7...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28137236/the-use-of-the-zebrafish-model-to-aid-in-drug-discovery-and-target-validation
#7
Prusothman Yoganantharjah, Yann Gibert
The zebrafish is fast becoming a leading and prominent model organism used by researchers for developmental biology, and research in modeling human diseases in zebrafish is being undertaken at a fast pace. Many therapeutic areas, including oncology and cardiovascular diseases to name a few all have zebrafish models based on known disease mechanisms that are translatable to modes of action in humans. Many novel assays have been and are continuing to be developed to study human disease in zebrafish. Prominent methods to identify novel drug targets within the organism include, chemical mutagenesis, insertional mutagenesis and high throughput small molecule screens...
January 30, 2017: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/28110285/validation-of-a-clinical-screening-instrument-for-tumour-predisposition-syndromes-in-patients-with-childhood-cancer-tups-protocol-for-a-prospective-observational-multicentre-study
#8
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, Cora M Aalfs, Jakob K Anninga, Lieke Pv Berger, Fonnet E Bleeker, Eveline Sjm de Bont, Corianne Ajm de Borgie, Charlotte J Dommering, Natasha Ka van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia Mj Hopman, Marjolijn Cj Jongmans, Wijnanda A Kors, Tom Gw Letteboer, Jan Lcm Loeffen, Johannes Hm Merks, Maran Jw Olderode-Berends, Floor Am Postema, Anja Wagner
INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation...
January 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28107965/loopback-rolling-circle-amplification-for-ultrasensitive-detection-of-kras-gene
#9
Huo Xu, Dong Wu, Yifan Jiang, Rongbo Zhang, Qingzheng Wu, Yiyun Liu, Feng Li, Zai-Sheng Wu
Mutations in Kras gene may be used as a diagnostic marker and a target for treatment of the broad spectrum of human cancers. In this study, we developed a new class of amplification assay, double-hairpin molecular beacon (DHMB)-based cascade rolling circle amplification (RCA), for ultrasensitive and selective detection of Kras gene in a homogenous solution. Specifically, target DNA can hybridize with DHMB and activate cyclical target strand-displacement polymerization (CTDP) and nicking-mediated strand-displacement polymerization (NMDP)...
March 1, 2017: Talanta
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#10
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27994592/kir-genes-and-their-ligands-predict-the-response-to-anti-egfr-monoclonal-antibodies-in-solid-tumors
#11
Cristina Morales-Estevez, Juan De la Haba-Rodriguez, Barbara Manzanares-Martin, Ignacio Porras-Quintela, Antonio Rodriguez-Ariza, Alberto Moreno-Vega, Maria J Ortiz-Morales, Maria A Gomez-España, Maria T Cano-Osuna, Javier Lopez-Gonzalez, Beatriz Chia-Delgado, Rafael Gonzalez-Fernandez, Enrique Aranda-Aguilar
Killer-cell immunoglobulin-like receptors (KIRs) regulate the killing function of natural killer cells, which play an important role in the antibody-dependent cell-mediated cytotoxicity response exerted by therapeutic monoclonal antibodies (mAbs). However, it is unknown whether the extensive genetic variability of KIR genes and/or their human leukocyte antigen (HLA) ligands might influence the response to these treatments. This study aimed to explore whether the variability in KIR/HLA genes may be associated with the variable response observed to mAbs based anti-epidermal growth factor receptor (EGFR) therapies...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27933213/molecular-pathology-of-cancer-how-to-communicate-with-disease
#12
REVIEW
Peter Birner, Gerald Prager, Berthold Streubel
Recent technical advances have brought insights into the biology of cancer in human, establishing it as a disease driven by genetic mutations. Beside inherited family tumour syndromes caused by germline mutations, somatic genetic alterations occur early in tumourigenesis, which accumulate during the progression of the disease and its treatment. Based on these observations, medical oncology has started to enter an era of stratified medicine, where treatment selection is becoming tailored to drugable molecular pathways...
2016: ESMO Open
https://www.readbyqxmd.com/read/27921323/the-application-of-strand-invasion-phenomenon-directed-by-peptide-nucleic-acid-pna-and-single-stranded-dna-binding-protein-ssb-for-the-recognition-of-specific-sequences-of-human-endogenous-retroviral-herv-w-family
#13
Grzegorz Machnik, Łukasz Bułdak, Jarosław Ruczyński, Tomasz Gąsior, Małgorzata Huzarska, Dariusz Belowski, Magdalena Alenowicz, Piotr Mucha, Piotr Rekowski, Bogusław Okopień
The HERV-W family of human endogenous retroviruses represents a group of numerous sequences that show close similarity in genetic composition. It has been documented that some members of HERV-W-derived expression products are supposed to play significant role in humans' pathology, such as multiple sclerosis or schizophrenia. Other members of the family are necessary to orchestrate physiological processes (eg, ERVWE1 coding syncytin-1 that is engaged in syncytiotrophoblast formation). Therefore, an assay that would allow the recognition of particular form of HERV-W members is highly desirable...
December 6, 2016: Journal of Molecular Recognition: JMR
https://www.readbyqxmd.com/read/27910033/cytogenetic-resources-and-information
#14
Etienne De Braekeleer, Jean-Loup Huret, Hossain Mossafa, Philippe Dessen
The main databases devoted stricto sensu to cancer cytogenetics are the "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" ( http://cgap.nci.nih.gov/Chromosomes/Mitelman ), the "Atlas of Genetics and Cytogenetics in Oncology and Haematology" ( http://atlasgeneticsoncology.org ), and COSMIC ( http://cancer.sanger.ac.uk/cosmic ).However, being a complex multistep process, cancer cytogenetics are broadened to "cytogenomics," with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27894687/reprint-of-biomonitoring-of-genotoxic-effects-for-human-exposure-to-nanomaterials-the-challenge-ahead
#15
REVIEW
Laetitia Gonzalez, Micheline Kirsch-Volders
Exposures to nanomaterials (NMs), with their specific physico-chemical characteristics, are likely to increase over the next years, as their production for industrial, consumer and medical applications is steadily rising. Therefore, there is an urgent need for the implementation of human biomonitoring studies of genotoxic effects after NM exposures in order to monitor and assure safety for workers and the general population. In this review, most commonly used biomarkers of early genetic effects were analyzed for their adequacy after NM exposures...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27843641/esmo-asco-recommendations-for-a-global-curriculum-in-medical-oncology-edition-2016
#16
REVIEW
Christian Dittrich, Michael Kosty, Svetlana Jezdic, Doug Pyle, Rossana Berardi, Jonas Bergh, Nagi El-Saghir, Jean-Pierre Lotz, Pia Österlund, Nicholas Pavlidis, Gunta Purkalne, Ahmad Awada, Susana Banerjee, Smita Bhatia, Jan Bogaerts, Jan Buckner, Fatima Cardoso, Paolo Casali, Edward Chu, Julia Lee Close, Bertrand Coiffier, Roisin Connolly, Sarah Coupland, Luigi De Petris, Maria De Santis, Elisabeth G E de Vries, Don S Dizon, Jennifer Duff, Linda R Duska, Alexandru Eniu, Marc Ernstoff, Enriqueta Felip, Martin F Fey, Jill Gilbert, Nicolas Girard, Andor W J M Glaudemans, Priya K Gopalan, Axel Grothey, Stephen M Hahn, Diana Hanna, Christian Herold, Jørn Herrstedt, Krisztian Homicsko, Dennie V Jones, Lorenz Jost, Ulrich Keilholz, Saad Khan, Alexander Kiss, Claus-Henning Köhne, Rainer Kunstfeld, Heinz-Josef Lenz, Stuart Lichtman, Lisa Licitra, Thomas Lion, Saskia Litière, Lifang Liu, Patrick J Loehrer, Merry Jennifer Markham, Ben Markman, Marius Mayerhoefer, Johannes G Meran, Olivier Michielin, Elizabeth Charlotte Moser, Giannis Mountzios, Timothy Moynihan, Torsten Nielsen, Yuichiro Ohe, Kjell Öberg, Antonio Palumbo, Fedro Alessandro Peccatori, Michael Pfeilstöcker, Chandrajit Raut, Scot C Remick, Mark Robson, Piotr Rutkowski, Roberto Salgado, Lidia Schapira, Eva Schernhammer, Martin Schlumberger, Hans-Joachim Schmoll, Lowell Schnipper, Cristiana Sessa, Charles L Shapiro, Julie Steele, Cora N Sternberg, Friedrich Stiefel, Florian Strasser, Roger Stupp, Richard Sullivan, Josep Tabernero, Luzia Travado, Marcel Verheij, Emile Voest, Everett Vokes, Jamie Von Roenn, Jeffrey S Weber, Hans Wildiers, Yosef Yarden
The European Society for Medical Oncology (ESMO) and the American Society of Clinical Oncology (ASCO) are publishing a new edition of the ESMO/ASCO Global Curriculum (GC) thanks to contribution of 64 ESMO-appointed and 32 ASCO-appointed authors. First published in 2004 and updated in 2010, the GC edition 2016 answers to the need for updated recommendations for the training of physicians in medical oncology by defining the standard to be fulfilled to qualify as medical oncologists. At times of internationalisation of healthcare and increased mobility of patients and physicians, the GC aims to provide state-of-the-art cancer care to all patients wherever they live...
2016: ESMO Open
https://www.readbyqxmd.com/read/27770808/p14-expression-differences-in-ovarian-benign-borderline-and-malignant-epithelial-tumors
#17
Vinicius Duarte Cabral, Marcelle Reesink Cerski, Ivana Trindade Sa Brito, Lucia Maria Kliemann
BACKGROUND: Abnormalities in tumor suppressors p14, p16 and p53 are reported in several human cancers. In ovarian epithelial carcinogenesis, p16 and p53 show higher immunohistochemical staining frequencies in malignant tumors and are associated with poor prognoses. p14 was only analyzed in carcinomas, with conflicting results. There are no reports on its expression in benign and borderline tumors. This study aims to determine p14, p16 and p53 expression frequencies in ovarian benign, borderline and malignant tumors and their associations with clinical parameters...
October 22, 2016: Journal of Ovarian Research
https://www.readbyqxmd.com/read/27742414/family-specific-variants-and-the-limits-of-human-genetics
#18
REVIEW
Brian H Shirts, Colin C Pritchard, Tom Walsh
Every single-nucleotide change compatible with life is present in the human population today. Understanding these rare human variants defines an extraordinary challenge for genetics and medicine. The new clinical practice of sequencing many genes for hereditary cancer risk has illustrated the utility of clinical next-generation sequencing in adults, identifying more medically actionable variants than single-gene testing. However, it has also revealed a linear relationship between the length of DNA evaluated and the number of rare 'variants of uncertain significance' reported...
November 2016: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/27663983/the-inherited-p53-mutation-in-the-brazilian-population
#19
Maria Isabel Achatz, Gerard P Zambetti
A common criticism of studying rare diseases is the often-limited relevance of the findings to human health. Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. We have come to learn that the p.R337H mutation exists at a very high frequency in Southern and Southeastern Brazil, occurring in one of 375 individuals within a total population of ∼100 million...
December 1, 2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27642271/metabolomics-enables-precision-medicine-a-white-paper-community-perspective
#20
Richard D Beger, Warwick Dunn, Michael A Schmidt, Steven S Gross, Jennifer A Kirwan, Marta Cascante, Lorraine Brennan, David S Wishart, Matej Oresic, Thomas Hankemeier, David I Broadhurst, Andrew N Lane, Karsten Suhre, Gabi Kastenmüller, Susan J Sumner, Ines Thiele, Oliver Fiehn, Rima Kaddurah-Daouk
INTRODUCTION BACKGROUND TO METABOLOMICS: Metabolomics is the comprehensive study of the metabolome, the repertoire of biochemicals (or small molecules) present in cells, tissues, and body fluids. The study of metabolism at the global or "-omics" level is a rapidly growing field that has the potential to have a profound impact upon medical practice. At the center of metabolomics, is the concept that a person's metabolic state provides a close representation of that individual's overall health status...
2016: Metabolomics: Official Journal of the Metabolomic Society
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