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Medical Genetics, Human Genetics, Cancers

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https://www.readbyqxmd.com/read/28922727/the-relevance-of-gastric-cancer-biomarkers-in-prognosis-and-pre-and-post-chemotherapy-in-clinical-practice
#1
REVIEW
Muhammad Abbas, Murad Habib, Muhammad Naveed, Kumaragurubaran Karthik, Kuldeep Dhama, Meiqi Shi, Chen Dingding
Gastric cancer (GC) is one among the major cancer types, causing human deaths and present noticeable heterogeneity. The incidences and mortality rates are higher in males in comparison to females with a male to female ratio of 2.3:1. A lot of studies have revealed out the molecular basis, pathogenesis, invasion and metastasis related findings of gastric stomach cancer. Present review encompasses the salient information on various biomarkers for the early diagnosis, treatment and prognosis of gastric cancer elaborate the clinical importance of serum tumor markers in patients with this cancer as well as checking the growths, together with epigenetic changes and genetic polymorphisms...
September 14, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28835705/discovery-and-characterization-of-the-feline-mirnaome
#2
Alessandro Laganà, Wessel P Dirksen, Wachiraphan Supsavhad, Ayse Selen Yilmaz, Hatice G Ozer, James D Feller, Kiersten A Vala, Carlo M Croce, Thomas J Rosol
The domestic cat is an important human companion animal that can also serve as a relevant model for ~250 genetic diseases, many metabolic and degenerative conditions, and forms of cancer that are analogous to human disorders. MicroRNAs (miRNAs) play a crucial role in many biological processes and their dysregulation has a significant impact on important cellular pathways and is linked to a variety of diseases. While many species already have a well-defined and characterized miRNAome, miRNAs have not been carefully studied in cats...
August 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28731408/defining-the-biological-basis-of-radiomic-phenotypes-in-lung-cancer
#3
Patrick Grossmann, Olya Stringfield, Nehme El-Hachem, Marilyn M Bui, Emmanuel Rios Velazquez, Chintan Parmar, Ralph Th Leijenaar, Benjamin Haibe-Kains, Philippe Lambin, Robert J Gillies, Hugo Jwl Aerts
Medical imaging can visualize characteristics of human cancer noninvasively. Radiomics is an emerging field that translates these medical images into quantitative data to enable phenotypic profiling of tumors. While radiomics has been associated with several clinical endpoints, the complex relationships of radiomics, clinical factors, and tumor biology are largely unknown. To this end, we analyzed two independent cohorts of respectively 262 North American and 89 European patients with lung cancer, and consistently identified previously undescribed associations between radiomic imaging features, molecular pathways, and clinical factors...
July 21, 2017: ELife
https://www.readbyqxmd.com/read/28717669/pitfalls-in-genetic-testing-a-case-of-a-snp-in-primer-annealing-region-leading-to-allele-dropout-in-brca1
#4
Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, Raquel Stabellini, Dirce Maria Carraro
BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR-based screening techniques, such as capillary sequencing and next-generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Single-nucleotide polymorphisms (SNPs) constitute a vast source of variation in the human genome and represent a risk for misdiagnosis in genetic testing, since the presence of a SNP in primer-annealing sites may cause false negative results due to allele dropout...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28694093/functional-analyses-of-major-cancer-related-signaling-pathways-in-alzheimer-s-disease-etiology
#5
REVIEW
Jianping Guo, Ji Cheng, Brian J North, Wenyi Wei
Alzheimer's disease (AD) is an aging-related neurodegenerative disease and accounts for majority of human dementia. The hyper-phosphorylated tau-mediated intracellular neurofibrillary tangle and amyloid β-mediated extracellular senile plaque are characterized as major pathological lesions of AD. Different from the dysregulated growth control and ample genetic mutations associated with human cancers, AD displays damage and death of brain neurons in the absence of genomic alterations. Although various biological processes predominately governing tumorigenesis such as inflammation, metabolic alteration, oxidative stress and insulin resistance have been associated with AD genesis, the mechanistic connection of these biological processes and signaling pathways including mTOR, MAPK, SIRT, HIF, and the FOXO pathway controlling aging and the pathological lesions of AD are not well recapitulated...
July 8, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#6
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28655303/knowledge-attitudes-and-values-among-physicians-working-with-clinical-genomics-a-survey-of-medical-oncologists
#7
Peter Chow-White, Dung Ha, Janessa Laskin
BACKGROUND: It has been over a decade since the completion of the Human Genome Project (HGP), genomic sequencing technologies have yet to become parts of standard of care in Canada. This study investigates medical oncologists' (MOs) genomic literacy and their experiences based on their participation in a cancer genomics trial in British Columbia, Canada. METHODS: The authors conducted a survey of MOs from British Columbia, Canada (n = 31, 52.5% response rate), who are actively involved in a clinical genomics trial called Personalized Onco-Genomics (POG)...
June 27, 2017: Human Resources for Health
https://www.readbyqxmd.com/read/28621412/the-not-so-long-history-of-zebrafish-research-in-israel
#8
Janna Blechman, Gil Levkowitz, Yoav Gothilf
The zebrafish has become a model of choice in fundamental and applied life sciences and is widely used in various fields of biomedical research as a human disease model for cancer, metabolic and neurodegenerative diseases, and regenerative medicine. The transparency of the zebrafish embryo allows real-time visualization of the development and morphogenesis of practically all of its tissues and organs. Zebrafish are amenable to genetic manipulation, for which innovative genetic and molecular techniques are constantly being introduced...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28592099/-study-of-the-association-between-polymorphism-of-persistent-obesity-human-leptin-gene-leptin-receptor-gene-and-molecular-subtypes-of-breast-cancer
#9
X L Yuan, Z P Xu, C R Liu, L P Yan, P Tao, P Xiong, Q Li, M Zhou, H Li, M Zhao, J Y Li
Objectives: To explore the association between the polymorphism of persistent obesity and genetic variations in the LEP (human leptin gene, LEP) and LEPR (leptin receptor gene, LEPR) genes and different molecular subtypes of breast cancer. Methods: All 703 female patients of breast cancer diagnosed by histopathology in the Sichuan Cancer Hospital or the West China Hospital, excluding patients with metastatic breast cancer or mental disease, were selected as cases from April 2014 to May 2015. At the same time, 805 healthy women received physical examination in medical examination center of Sichuan People Hospital or Shuangliu maternal and child health care hospital, excluding those with therioma, breast disease, and mental disease, were enrolled in control group...
June 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28590426/down-s-syndrome-and-triple-negative-breast-cancer-a-rare-occurrence-of-distinctive-clinical-relationship
#10
Nandini Dey, Amy Krie, Jessica Klein, Kirstin Williams, Amanda McMillan, Rachel Elsey, Yuliang Sun, Casey Williams, Pradip De, Brian Leyland-Jones
Down's syndrome (DS), the most common genetic cause of significant intellectual disability in children and adults is caused by the trisomy of either all or a part of human chromosome 21 (HSA21). Patients with DS mostly suffer from characteristic tumor types. Although individual patients of DS are at a higher risk for acute leukemia and testicular cancers, other types of solid tumors including breast cancers are mostly uncommon and have significantly lower-than-expected age-adjusted incidence rates. Except for an increased risk of retinoblastomas, and lymphomas, the risk of developing solid tumors has been found to be lower in both children and adults, and breast cancer was found to be almost absent (Hasle H...
June 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28585436/tree-shrew-tupaia-belangeri-as-a-novel-laboratory-disease-animal-model
#11
REVIEW
Ji Xiao, Rong Liu, Ce-Shi Chen
The tree shrew (Tupaia belangeri) is a promising laboratory animal that possesses a closer genetic relationship to primates than to rodents. In addition, advantages such as small size, easy breeding, and rapid reproduction make the tree shrew an ideal subject for the study of human disease. Numerous tree shrew disease models have been generated in biological and medical studies in recent years. Here we summarize current tree shrew disease models, including models of infectious diseases, cancers, depressive disorders, drug addiction, myopia, metabolic diseases, and immune-related diseases...
May 18, 2017: Zoological Research
https://www.readbyqxmd.com/read/28557458/design-and-discovery-of-n-2-methyl-5-morpholino-6-tetrahydro-2h-pyran-4-yl-oxy-3-3-bipyridin-5-yl-3-trifluoromethyl-benzamide-raf709-a-potent-selective-and-efficacious-raf-inhibitor-targeting-ras-mutant-cancers
#12
Gisele A Nishiguchi, Alice Rico, Huw Tanner, Robert J Aversa, Benjamin R Taft, Sharadha Subramanian, Lina Setti, Matthew T Burger, Lifeng Wan, Victoriano Tamez, Aaron Smith, Yan Lou, Paul A Barsanti, Brent A Appleton, Mulugeta Mamo, Laura Tandeske, Ina Dix, John E Tellew, Shenlin Huang, Lesley A Mathews Griner, Vesselina G Cooke, Anne Van Abbema, Hanne Merritt, Sylvia Ma, Kalyani Gampa, Fei Feng, Jing Yuan, Yingyun Wang, Jacob R Haling, Sepideh Vaziri, Mohammad Hekmat-Nejad, Johanna M Jansen, Valery Polyakov, Richard Zang, Vijay Sethuraman, Payman Amiri, Mallika Singh, Emma Lees, Wenlin Shao, Darrin D Stuart, Michael P Dillon, Savithri Ramurthy
RAS oncogenes have been implicated in >30% of human cancers, all representing high unmet medical need. The exquisite dependency on CRAF kinase in KRAS mutant tumors has been established in genetically engineered mouse models and human tumor cells. To date, many small molecule approaches are under investigation to target CRAF, yet kinase-selective and cellular potent inhibitors remain challenging to identify. Herein, we describe 14 (RAF709) [ Aversa , Biaryl amide compounds as kinase inhibitors and their preparation ...
June 22, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28545610/a-case-based-reasoning-system-based-on-weighted-heterogeneous-value-distance-metric-for-breast-cancer-diagnosis
#13
Dongxiao Gu, Changyong Liang, Huimin Zhao
OBJECTIVE: We present the implementation and application of a case-based reasoning (CBR) system for breast cancer related diagnoses. By retrieving similar cases in a breast cancer decision support system, oncologists can obtain powerful information or knowledge, complementing their own experiential knowledge, in their medical decision making. METHODS: We observed two problems in applying standard CBR to this context: the abundance of different types of attributes and the difficulty in eliciting appropriate attribute weights from human experts...
March 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28515940/nivolumab-induced-autoimmune-diabetes-mellitus-presenting-as-diabetic-ketoacidosis-in-a-patient-with-metastatic-lung-cancer
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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