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Medical Genetics, Epigenetics, Cancer Genetics

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https://www.readbyqxmd.com/read/30277670/diseases-of-the-oral-cavity-in-light-of-the-newest-epigenetic-research-possible-implications-for-stomatology
#1
REVIEW
Jadwiga Jośko-Ochojska, Katarzyna Rygiel, Lidia Postek-Stefańska
Epigenetics is the study of inheritable changes in gene expression without changes in the underlying deoxyribonucleic acid (DNA) sequence. The main mechanisms of epigenetic regulation include DNA methylation, modifications in histones, and micro-ribonucleic acids (miRNA). Recent research evidence has shown that environmental and lifestyle factors dynamically interact with the genome, influencing epigenetic changes, from development to the later stages of life. This happens across a spectrum, from physiological to pathological conditions, such as genetic defects, developmental disorders, infectious or inflammatory processes, cancers, mental disorders, and substance abuse...
October 2, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/30086794/a-nexus-model-of-cellular-transition-in-cancer
#2
REVIEW
Mukesh Yadav, Payal Chatterjee, Simran Tolani, Jaya Kulkarni, Meenakshi Mulye, Namrata Chauhan, Aditi Sakhi, Sakshi Gorey
The exact cause of cancer is one of the most immutable medical questions of the century. Cancer as an evolutionary disease must have a purpose and understanding the purpose is more important than decoding the cause. The model of cancer proposed herein, provides a link between the cellular biochemistry and cellular genetics of cancer evolution. We thus call this model as the "Nexus model" of cancer. The Nexus model is an effort to identify the most apparent route to the disease. We have tried to utilize existing cancer literature to identify the most plausible causes of cellular transition in cancer, where the primary cancer-causing agents (physical, chemical or biological) act as inducing factors to produce cellular impeders...
August 7, 2018: Biological Research
https://www.readbyqxmd.com/read/30003270/targeting-epigenetics-using-synthetic-lethality-in-precision-medicine
#3
REVIEW
Ee Sin Chen
Technological breakthroughs in genomics have had a significant impact on clinical therapy for human diseases, allowing us to use patient genetic differences to guide medical care. The "synthetic lethal approach" leverages on cancer-specific genetic rewiring to deliver a therapeutic regimen that preferentially targets malignant cells while sparing normal cells. The utility of this system is evident in several recent studies, particularly in poor prognosis cancers with loss-of-function mutations that become "treatable" when two otherwise discrete and unrelated genes are targeted simultaneously...
September 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29976178/study-protocol-of-the-raps-study-novel-risk-adapted-prevention-strategies-for-people-with-a-family-history-of-colorectal-cancer
#4
Kaja Tikk, Korbinian Weigl, Michael Hoffmeister, Svitlana Igel, Matthias Schwab, Jochen Hampe, Stefanie J Klug, Ulrich Mansmann, Frank Kolligs, Hermann Brenner
BACKGROUND: People aged 40-60 years with a family history (FH) of colorectal cancer (CRC) in 1st degree relatives (FDRs) have a 2- to 4-fold increased risk of CRC compared to the average risk population. Therefore, experts recommend starting CRC screening earlier for this high-risk group. However, information on prevalence of relevant colonoscopic findings in this group is sparse, and no risk adapted screening offers are implemented in the German health care system. For example, screening colonoscopy is uniformly offered from age 55 on, regardless of family history...
July 6, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29947826/how-does-the-social-environment-during-life-course-embody-in-and-influence-the-development-of-cancer
#5
Ming Chen, Huiyun Zhu, Yiqi Du, Geliang Yang
OBJECTIVES: This review assessed the complex longitudinal processes involved in cancer etiology during life course to understand how the social inequality may be embodied in and influence cancer risk. METHODS: A narrative literature review was performed with a keyword search conducted using PubMed, Scientific Electronic Library Online and Google. Three aspects of literatures were mainly included: social environmental mechanisms of cancer, life course of cancer development and social inequality of cancer risk...
September 2018: International Journal of Public Health
https://www.readbyqxmd.com/read/29876001/stk3-is-a-therapeutic-target-for-a-subset-of-acute-myeloid-leukemias
#6
Aylin Camgoz, Maciej Paszkowski-Rogacz, Shankha Satpathy, Martin Wermke, Martin V Hamann, Malte von Bonin, Chunaram Choudhary, Stefan Knapp, Frank Buchholz
Acute myeloid leukemia (AML) is characterized by uncontrolled proliferation and accumulation of immature myeloblasts, which impair normal hematopoiesis. While this definition categorizes the disease into a distinctive group, the large number of different genetic and epigenetic alterations actually suggests that AML is not a single disease, but a plethora of malignancies. Still, most AML patients are not treated with targeted medication but rather by uniform approaches such as chemotherapy. The identification of novel treatment options likely requires the identification of cancer cell vulnerabilities that take into account the different genetic and epigenetic make-up of the individual tumors...
May 22, 2018: Oncotarget
https://www.readbyqxmd.com/read/29807577/progress-in-low-dose-health-risk-research-novel-effects-and-new-concepts-in-low-dose-radiobiology
#7
REVIEW
Dietrich Averbeck, Sisko Salomaa, Simon Bouffler, Andrea Ottolenghi, Vere Smyth, Laure Sabatier
People are more often exposed to low as opposed to high doses of ionising radiation (IR). Knowledge on the health risks associated with exposures to ionising radiation above 100 mGy is quite well established, while lower dose risks are inferred from higher level exposure information (ICRP). The health risk assessments are mainly based on epidemiological data derived from the atomic bombing of Hiroshima and Nagasaki, medical exposure studies and follow-up studies after nuclear accidents. For the estimation of long-term stochastic radiation health effects (such as cancer) and radiation protection purposes, a linear non-threshold (LNT) model is applied...
April 2018: Mutation Research
https://www.readbyqxmd.com/read/29799080/the-challenge-of-drug-resistance-in-cancer-treatment-a-current-overview
#8
Michail Nikolaou, Athanasia Pavlopoulou, Alexandros G Georgakilas, Efthymios Kyrodimos
It is generally accepted that recent advances in anticancer agents have contributed significantly to the improvement of both the disease-free survival and quality of life in cancer patients. However, in many instances, a favorable initial response to treatment changes afterwards, thereby leading to cancer relapse and recurrence. This phenomenon of acquired resistance to therapy, it is a major problem for totally efficient anticancer therapy. The failure to obtain an initial response reflects a form of intrinsic resistance...
April 2018: Clinical & Experimental Metastasis
https://www.readbyqxmd.com/read/29707086/epigenetics-of-metabolic-syndrome-as-a-mood-disorder
#9
REVIEW
Sermin Kesebir
Mood disorders comprise major depressive disorder (MDD), bipolar disorder (BD) and the milder forms of these two disorders. Reccurring MDD is also known as unipolar disorder. The distinction between unipolar and bipolar disorders was first suggested in 1957 by Leonard and was made official after support by several studies in 1980. Indeed, in 150 AD, Aretaeus of Cappadocia wrote "It seems to me that melancholia is the beginning and a part of mania". Additionally, Kraepelin, who proposed the first medical disease model in psychiatry a century ago, considered recurrent unipolar depression cases under the category of bipolar disorder and conceptualized spectrum disorders...
June 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29605047/biological-origins-of-sexual-orientation-and-gender-identity-impact-on-health
#10
REVIEW
Katherine A O'Hanlan, Jennifer C Gordon, Mackenzie W Sullivan
Gynecologic Oncologists are sometimes consulted to care for patients who present with diverse gender identities or sexual orientations. Clinicians can create more helpful relationships with their patients if they understand the etiologies of these diverse expressions of sexual humanity. Multidisciplinary evidence reveals that a sexually dimorphic spectrum of somatic and neurologic anatomy, traits and abilities, including sexual orientation and gender identity, are conferred together during the first half of pregnancy due to genetics, epigenetics and the diversity of timing and function of sex chromosomes, sex-determining protein secretion, gonadal hormone secretion, receptor levels, adrenal function, maternally ingested dietary hormones, fetal health, and many other factors...
April 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29475968/mirna-processing-gene-methylation-and-cancer-risk
#11
Brian T Joyce, Yinan Zheng, Zhou Zhang, Lei Liu, Masha Kocherginsky, Robert Murphy, Chad J Achenbach, Jonah Musa, Firas Wehbe, Allan Just, Jincheng Shen, Pantel Vokonas, Joel Schwartz, Andrea A Baccarelli, Lifang Hou
Background: Dysregulation of miRNA and methylation levels are epigenetic hallmarks of cancer, potentially linked via miRNA-processing genes. Studies have found genetic alterations to miRNA-processing genes in cancer cells and human population studies. Our objective was to prospectively examine changes in DNA methylation of miRNA-processing genes and their associations with cancer risk. Methods: We examined cohort data from the Department of Veterans' Affairs Normative Aging Study. Participants were assessed every 3 to 5 years starting in 1999 through 2013 including questionnaires, medical record review, and blood collection...
May 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29438472/klinefelter-syndrome-integrating-genetics-neuropsychology-and-endocrinology
#12
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose substantial diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of patients with KS are accurately diagnosed and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
August 1, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29401301/single-molecule-real-time-smrt-sequencing-comes-of-age-applications-and-utilities-for-medical-diagnostics
#13
Simon Ardui, Adam Ameur, Joris R Vermeesch, Matthew S Hestand
Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems...
March 16, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29348905/bridging-the-divide-preclinical-research-discrepancies-between-triple-negative-breast-cancer-cell-lines-and-patient-tumors
#14
REVIEW
Andrew Sulaiman, Lisheng Wang
Triple-negative breast cancer (TNBC) is the most refractory subtype of breast cancer and disproportionately accounts for the majority of breast cancer related deaths. Effective treatment of this disease remains an unmet medical need. Over the past several decades, TNBC cell lines have been used as the foundation for drug development and disease modeling. However, ever-mounting research demonstrates striking differences between cell lines and clinical TNBC tumors, disconnecting bench research and actual clinical responses...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29168653/utilizing-biomarkers-in-colorectal-cancer-an-interview-with-ajay-goel
#15
Ajay Goel
Ajay Goel speaks to Rachel Jenkins, Commissioning Editor. Ajay Goel, PhD, is a Professor and Director, Center for Gastrointestinal Research, and Director, Center for Translational Genomics and Oncology, at the Baylor Scott & White Research Institute, Baylor University Medical Center in Dallas, Texas. Dr Goel has spent more than 20 years researching cancer and has been the lead author or contributor to over 240 scientific articles published in peer-reviewed international journals and several book chapters...
December 2017: Future Oncology
https://www.readbyqxmd.com/read/29146225/response-comparison-of-multiple-myeloma-and-monoclonal-gammopathy-of-undetermined-significance-to-the-same-anti-myeloma-therapy-a-retrospective-cohort-study
#16
John P Campbell, Jennifer L J Heaney, Sankalp Pandya, Zaheer Afzal, Martin Kaiser, Roger Owen, J Anthony Child, David A Cairns, Walter Gregory, Gareth J Morgan, Graham H Jackson, Chris M Bunce, Mark T Drayson
BACKGROUND: Multiple myeloma is consistently preceded by monoclonal gammopathy of undetermined significance (MGUS), which is usually only treated by a form of anti-multiple myeloma therapy if it is causing substantial disease through deposition of secreted M proteins. However, studies comparing how MGUS and multiple myeloma plasma cell clones respond to these therapies are scarce. Biclonal gammopathy multiple myeloma is characterised by the coexistence of an active multiple myeloma clone and a benign MGUS clone, and thus provides a unique model to assess the responses of separate clones to the same anti-multiple myeloma therapy, in the same patient, at the same time...
December 2017: Lancet Haematology
https://www.readbyqxmd.com/read/29092954/deepphe-a-natural-language-processing-system-for-extracting-cancer-phenotypes-from-clinical-records
#17
Guergana K Savova, Eugene Tseytlin, Sean Finan, Melissa Castine, Timothy Miller, Olga Medvedeva, David Harris, Harry Hochheiser, Chen Lin, Girish Chavan, Rebecca S Jacobson
Precise phenotype information is needed to understand the effects of genetic and epigenetic changes on tumor behavior and responsiveness. Extraction and representation of cancer phenotypes is currently mostly performed manually, making it difficult to correlate phenotypic data to genomic data. In addition, genomic data are being produced at an increasingly faster pace, exacerbating the problem. The DeepPhe software enables automated extraction of detailed phenotype information from electronic medical records of cancer patients...
November 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/29018892/novel-treatment-opportunities-for-sulfur-mustard-related-cancers-genetic-and-epigenetic-perspectives
#18
REVIEW
Soheila Rahmani, Mohammad Abdollahi
Sulfur mustard (SM), also known as mustard gas, is a chemical weapon which by now has been used in many wars. The most concerning SM toxic effect is probable carcinogenicity. In this study, the genetic and epigenetic mechanisms of SM carcinogenicity, by focusing on treatment of SM-associated malignancies, particularly gene therapeutics, cancer vaccines, and epigenetic medications, have been criticized. The required data were collected through an organized search on valid scientific databases. For SM carcinogenicity due to acute or chronic exposure, the entire original and review articles were evaluated...
December 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28961226/innovative-disease-model-zebrafish-as-an-in-vivo-platform-for-intestinal-disorder-and-tumors
#19
REVIEW
Jeng-Wei Lu, Yi-Jung Ho, Shih-Ci Ciou, Zhiyuan Gong
Colorectal cancer (CRC) is one of the world's most common cancers and is the second leading cause of cancer deaths, causing more than 50,000 estimated deaths each year. Several risk factors are highly associated with CRC, including being overweight, eating a diet high in red meat and over-processed meat, having a history of inflammatory bowel disease, and smoking. Previous zebrafish studies have demonstrated that multiple oncogenes and tumor suppressor genes can be regulated through genetic or epigenetic alterations...
September 29, 2017: Biomedicines
https://www.readbyqxmd.com/read/28818454/the-anti-tumor-effect-of-intravesical-administration-of-normal-urothelial-cells-on-bladder-cancer
#20
Chi-Ping Huang, Chi-Cheng Chen, Chih-Rong Shyr
BACKGROUND AIMS: Urothelial bladder cancer (UBC) is the second most common cancer of the genitourinary tract and for advanced forms of the disease it has a high mortality rate. There are no approved new molecularly targeted agents or chemotherapeutics for advanced UBC beyond cisplatin-based chemotherapy except the recently approved anti-programmed death ligand 1 (anti-PD-1/PD-L1) antibody. With complex genetic and epigenetic alterations in tumors, despite several druggable targets identified, to cure UBC is still a challenging unmet medical need...
October 2017: Cytotherapy
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