keyword
MENU ▼
Read by QxMD icon Read
search

Medical Genetics, Human Genetics, Cancers

keyword
https://www.readbyqxmd.com/read/28515940/nivolumab-induced-autoimmune-diabetes-mellitus-presenting-as-diabetic-ketoacidosis-in-a-patient-with-metastatic-lung-cancer
#1
James Luke Godwin, Shuchie Jaggi, Imali Sirisena, Pankaj Sharda, Ajay D Rao, Ranee Mehra, Colleen Veloski
BACKGROUND: Advances in cancer immunotherapy have generated encouraging results in multiple malignancies refractory to standard chemotherapies. As the use of immune checkpoint inhibitors (ICI) proliferates, the incidence of autoimmune side effects associated with these agents, termed immune related adverse events (irAE), is expected to increase. The frequency of significant irAE in ICI treated patients is about 10-20% and early recognition is critical to prevent serious morbidity and even mortality...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28490170/fertility-preservation-for-social-and-oncofertility-indications
#2
Paul R Brezina
The desire to reproduce is a base human instinct. However, for many individuals, the chances of being able to have a genetic child are compromised by a number of factors. For some, therapies aimed at treating serious medical illness, such as cancer; result in a deleterious impact on the function of eggs and sperm in the future thus compromising future fertility. In women, a predictable decrease in egg quality and quantity occurs with advancing maternal age. Therefore, women who choose to delay childbearing until their late 30s or early 40s may experience fertility difficulties that would not have been present earlier in life...
May 8, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28473040/individualized-medicine-in-gastroenterology-and-hepatology
#3
REVIEW
Michael C Stephens, Lisa A Boardman, Konstantinos N Lazaridis
After the completion of the Human Genome Project, there has been an acceleration in methodologies on sequencing nucleic acids (DNA and RNA) at a high precision and with ever-decreasing turnaround time and cost. Collectively, these approaches are termed next-generation sequencing and are already affecting the transformation of medical practice. In this symposium article, we highlight the current knowledge of the genetics of selected gastrointestinal tract and liver diseases, namely, inflammatory bowel disease, hereditary cholestatic liver disease, and familial colon cancer syndromes...
May 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28453651/a-panoromic-view-of-personal-cancer-genomes
#4
Lidia Mateo, Oriol Guitart-Pla, Carles Pons, Miquel Duran-Frigola, Roberto Mosca, Patrick Aloy
The massive molecular profiling of thousands of cancer patients has led to the identification of many tumor type specific driver genes. However, only a few (or none) of them are present in each individual tumor and, to enable precision oncology, we need to interpret the alterations found in a single patient. Cancer PanorOmics (http://panoromics.irbbarcelona.org) is a web-based resource to contextualize genomic variations detected in a personal cancer genome within the body of clinical and scientific evidence available for 26 tumor types, offering complementary cohort- and patient-centric views...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28293027/genetics-of-primary-sclerosing-cholangitis-and-pathophysiological-implications
#5
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...
May 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28274107/pathophysiology-and-management-of-alcoholic-liver-disease-update-2016
#6
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
#7
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
#8
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
#9
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...
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28150817/association-of-genomic-instability-with-hba1c-levels-and-medication-in-diabetic-patients
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
14921
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"