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Cancer susceptibility

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https://www.readbyqxmd.com/read/28651025/invasive-cx43-high-sub-line-of-human-prostate-du145-cells-displays-increased-nanomechanical-deformability
#1
Katarzyna Piwowarczyk, Michał Sarna, Damian Ryszawy, Jarosław Czyż
Connexin(Cx)43(high) cells are preferentially recruited to the invasive front of prostate cancer in vitro and in vivo. To address the involvement of Cx43 in the regulation of human prostate cancer DU145 cell invasiveness, we have analysed the nanoelasticity of invasive Cx43(high) sub-sets of DU145 cells by atomic force microscopy (AFM). The Cx43(high) DU145 cells displayed considerably higher susceptibility to mechanical distortions than the wild type DU145 cells. Transient Cx43 silencing had no effect on their elastic properties...
June 24, 2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/28649662/the-contribution-of-pathogenic-variants-in-breast-cancer-susceptibility-genes-to-familial-breast-cancer-risk
#2
Thomas P Slavin, Kara N Maxwell, Jenna Lilyquist, Joseph Vijai, Susan L Neuhausen, Steven N Hart, Vignesh Ravichandran, Tinu Thomas, Ann Maria, Danylo Villano, Kasmintan A Schrader, Raymond Moore, Chunling Hu, Bradley Wubbenhorst, Brandon M Wenz, Kurt D'Andrea, Mark E Robson, Paolo Peterlongo, Bernardo Bonanni, James M Ford, Judy E Garber, Susan M Domchek, Csilla Szabo, Kenneth Offit, Katherine L Nathanson, Jeffrey N Weitzel, Fergus J Couch
Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and proposed breast cancer susceptibility genes. Targeted massively-parallel sequencing was performed to identify mutations and copy number variants in 26 known or proposed breast cancer susceptibility genes in 2134 BRCA1/2-negative women with familial breast cancer (proband with breast cancer and a family history of breast or ovarian cancer) from a largely European-Caucasian multi-institutional cohort...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649369/recent-advances-in-understanding-contextual-tgf%C3%AE-signaling
#3
REVIEW
Arshad Ayyaz, Liliana Attisano, Jeffrey L Wrana
The appearance of the first animal species on earth coincides with the emergence of transforming growth factor β (TGFβ) pathways. The evolution of these animals into more complex organisms coincides with a progressively increased TGFβ repertoire through gene duplications and divergence, making secreted TGFβ molecules the largest family of morphogenetic proteins in humans. It is therefore not surprising that TGFβ pathways govern numerous aspects of human biology from early embryonic development to regeneration, hematopoiesis, neurogenesis, and immunity...
2017: F1000Research
https://www.readbyqxmd.com/read/28646744/systematic-biobanking-novel-imaging-techniques-and-advanced-molecular-analysis-for-precise-tumor-diagnosis-and-therapy-the-polish-mobit-project
#4
Jacek Niklinski, Adam Kretowski, Marcin Moniuszko, Joanna Reszec, Anna Michalska-Falkowska, Magdalena Niemira, Michal Ciborowski, Radoslaw Charkiewicz, Dorota Jurgilewicz, Miroslaw Kozlowski, Rodryg Ramlau, Cezary Piwkowski, Miroslaw Kwasniewski, Monika Kaczmarek, Andrzej Ciereszko, Tomasz Wasniewski, Robert Mroz, Wojciech Naumnik, Ewa Sierko, Magdalena Paczkowska, Joanna Kisluk, Anetta Sulewska, Adam Cybulski, Zenon Mariak, Boguslaw Kedra, Jacek Szamatowicz, Paweł Kurzawa, Lukasz Minarowski, Angelika Edyta Charkiewicz, Barbara Mroczko, Jolanta Malyszko, Christian Manegold, Lothar Pilz, Heike Allgayer, Mohammed L Abba, Hartmut Juhl, Frauke Koch
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized...
June 21, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28646699/insulin-and-the-polycystic-ovary-syndrome
#5
REVIEW
Djuro Macut, Jelica Bjekić-Macut, Dario Rahelić, Mirjana Doknić
Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy among women during reproductive age. PCOS is characterised by hyperandrogenaemia, hyperinsulinaemia, and deranged adipokines secretion from the adipose tissue. In addition to the reduced insulin sensitivity, PCOS women exhibit β-cell dysfunction as well. Low birth weight and foetal exposure to androgens may contribute to the development of the PCOS phenotype during life. Further metabolic complications lead to dyslipidaemia, worsening obesity and glucose tolerance, high prevalence of metabolic syndrome, and greater susceptibility to diabetes...
June 12, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28646614/does-breast-mri-background-parenchymal-enhancement-indicate-metabolic-activity-qualitative-and-3d-quantitative-computer-imaging-analysis
#6
Eralda Mema, Victoria L Mango, Xiaotao Guo, Jenika Karcich, Randy Yeh, Ralph T Wynn, Binsheng Zhao, Richard S Ha
PURPOSE: To investigate whether the degree of breast magnetic resonance imaging (MRI) background parenchymal enhancement (BPE) is associated with the amount of breast metabolic activity measured by breast parenchymal uptake (BPU) of 18F-FDG on positron emission tomography / computed tomography (PET/CT). MATERIALS AND METHODS: An Institutional Review Board (IRB)-approved retrospective study was performed. Of 327 patients who underwent preoperative breast MRI from 1/1/12 to 12/31/15, 73 patients had 18F-FDG PET/CT evaluation performed within 1 week of breast MRI and no suspicious findings in the contralateral breast...
June 24, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28646019/functionally-null-rad51d-missense-mutation-associates-strongly-with-ovarian-carcinoma
#7
Barbara Rivera, Massimo Di Iorio, Jessica Frankum, Javad Nadaf, Somayyeh Fahiminiya, Suzanna L Arcand, David L Burk, Damien Grapton, Eva Tomiak, Valerie Hastings, Nancy Hamel, Rabea Wagener, Olga Aleynikova, Sylvie Giroux, Fadi F Hamdan, Alexandre Dionne-Laporte, George Zogopoulos, Francois Rousseau, Albert M Berghuis, Diane Provencher, Guy A Rouleau, Jacques L Michaud, Anne-Marie Mes-Masson, Jacek Majewski, Susanne Bens, Reiner Siebert, Steven A Narod, Mohammad R Akbari, Christopher J Lord, Patricia N Tonin, Alexandre Orthwein, William D Foulkes
RAD51D is a key player in DNA repair by homologous recombination (HR) and RAD51D truncating mutation carriers have an increased risk for ovarian cancer (OC). However, the contribution of non-truncating RAD51D variants to cancer predisposition remains uncertain. Using deep sequencing and case-control genotyping studies, we show that in French Canadians, the missense RAD51D variant c.620C>T;p.S207L is highly prevalent and is associated with a high risk for ovarian high-grade serous carcinoma (HGSC) (3.8% cases vs 0...
June 23, 2017: Cancer Research
https://www.readbyqxmd.com/read/28645514/bcl-xl-deamidation-and-cancer-charting-the-fame-trajectories-of-legitimate-child-and-hidden-siblings
#8
REVIEW
Florian Beaumatin, Mohamad El Dhaybi, Claude Bobo, Mireille Verdier, Muriel Priault
Bcl-2 family proteins control programmed cell death through a complex network of interactions within and outside of this family, that are modulated by post-translational modifications (PTM). Bcl-xL, an anti-apoptotic member of this family, is overexpressed in a number of cancers, plays an important role in tumorigenesis and is correlated with drug resistance. Bcl-xL is susceptible to a number of different PTMs. Here, we focus on deamidation. We will first provide an overview of protein deamidation. We will then review how the apoptotic and autophagic functions of Bcl-xL are modified by this PTM, and how this impacts on its oncogenic properties...
June 20, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28645180/alcohol-metabolism-and-oesophageal-cancer-a-systematic-review-of-the-evidence
#9
Marco Matejcic, M J Gunter, Pietro Ferrari
Alcohol is a major risk factor for oesophageal squamous cell carcinoma (OSCC), the most prevalent histological subtype of oesophageal cancer (OC) worldwide. The metabolism of alcohol is regulated by specific enzymes whose activity and expression is influenced by genetic polymorphisms. We conducted a systematic review of current epidemiological evidence of the relationship between alcohol intake and OC risk, including the role of tobacco smoking and functional polymorphisms of dehydrogenases (ADHs) and aldehyde dehydrogenases (ALDHs)...
June 22, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28644886/complex-i-inhibition-augments-dichloroacetate-cytotoxicity-through-enhancing-oxidative-stress-in-vm-m3-glioblastoma-cells
#10
Nathan P Ward, Angela M Poff, Andrew P Koutnik, Dominic P D'Agostino
The robust glycolytic metabolism of glioblastoma multiforme (GBM) has proven them susceptible to increases in oxidative metabolism induced by the pyruvate mimetic dichloroacetate (DCA). Recent reports demonstrate that the anti-diabetic drug metformin enhances the damaging oxidative stress associated with DCA treatment in cancer cells. We sought to elucidate the role of metformin's reported activity as a mitochondrial complex I inhibitor in the enhancement of DCA cytotoxicity in VM-M3 GBM cells. Metformin potentiated DCA-induced superoxide production, which was required for enhanced cytotoxicity towards VM-M3 cells observed with the combination...
2017: PloS One
https://www.readbyqxmd.com/read/28644177/a-case-of-intravesical-bacillus-calmette-guerin-related-endophthalmitis-and-retinitis-confirmed-with-retinal-biopsy
#11
Alison Huggins, Murtaza Adam, David Ehmann, Ralph C Eagle, Barry Malloy, Sunir J Garg
PURPOSE: To present a rare case of bilateral endogenous chorioretinitis and unilateral endophthalmitis due to Mycobacterium bovis in a patient who received intravesical bacillus Calmette-Guerin (BCG) treatment. METHODS: We present a case of a single male patient with bilateral endogenous chorioretinitis due to Mycobacterium bovis in a patient who received intravesical BCG, an attenuated strain of M. bovis widely used to treat superficial bladder cancer. The patient underwent intravitreal tap, vitrectomy, and chorioretinal biopsy with histologic examination...
June 20, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28642997/pd-1-and-cancer-molecular-mechanisms-and-polymorphisms
#12
REVIEW
Arash Salmaninejad, Vahid Khoramshahi, Alireza Azani, Ehsan Soltaninejad, Saeed Aslani, Mohammad Reza Zamani, Masoud Zal, Abolfazl Nesaei, Sayed Mostafa Hosseini
The programmed cell death protein 1 (PD-1) is expressed by activated T cells that act as an immunoregulatory molecule, and are responsible for the negative regulation of T cell activation and peripheral tolerance. The PD-1 gene also encodes an inhibitory cell surface receptor involved in the regulation of T cell functions during immune responses/tolerance. Beyond potent inhibitory effects on T cells, PD-1 also has a role in regulating B cell and monocyte responses. An overexpression of PD-1 has been reported to contribute to immune system avoidance in different cancers...
June 22, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28641521/lncrna-hotair-polymorphisms-association-with-cancer-susceptibility-in-different-tumor-types
#13
Gerardo Botti, Francesca Collina, Giosuè Scognamiglio, Gabriella Aquino, Margherita Cerrone, Giuseppina Liguori, Vincenzo Gigantino, Maria Gabriella Malzone, Monica Cantile
Single nucleotide polymorphisms (SNPs) in non coding RNAs (ncRNA) molecules affect gene and protein expression and generate genetic variability influencing the risk of tumor diseases. HOTAIR is locates at the heart of the cell memory gene program and represents a prototype of long non coding RNA (LncRNA) due to its capacity to regulate in-trans a distant chromosome landscape. Aberrant expression of HOTAIR is frequently associated with pathogenesis and mostly with metastatic progression of several human cancers...
June 21, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28640877/identification-of-c-ebp%C3%AE-as-a-novel-target-of-the-hpv8-e6-protein-regulating-mir-203-in-human-keratinocytes
#14
Anna M Marthaler, Marta Podgorska, Pascal Feld, Alina Fingerle, Katrin Knerr-Rupp, Friedrich Grässer, Hans Smola, Klaus Roemer, Elke Ebert, Yoo-Jin Kim, Rainer M Bohle, Cornelia S L Müller, Jörg Reichrath, Thomas Vogt, Magdalena Malejczyk, Sławomir Majewski, Sigrun Smola
Patients suffering from Epidermodysplasia verruciformis (EV), a rare inherited skin disease, display a particular susceptibility to persistent infection with cutaneous genus beta-human papillomavirus (beta-HPV), such as HPV type 8. They have a high risk to develop non-melanoma skin cancer at sun-exposed sites. In various models evidence is emerging that cutaneous HPV E6 proteins disturb epidermal homeostasis and support carcinogenesis, however, the underlying mechanisms are not fully understood as yet. In this study we demonstrate that microRNA-203 (miR-203), a key regulator of epidermal proliferation and differentiation, is strongly down-regulated in HPV8-positive EV-lesions...
June 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28640146/no-association-of-tnf-%C3%AE-308g-a-polymorphisms-with-head-and-neck-cancer-risk-a-prisma-compliant-meta-analysis
#15
Cheng Yuan, Xin-Hua Xu, Lu Xu, Yang Liu, Min Sun, Li-Hua Ni, Xiao-Long Wang, Zhuo Chen, Kun Zhang, Guang Zeng
BACKGROUND: A number of studies had reported the association between tumor necrosis factor-alpha (TNF-α) gene polymorphisms and head and neck cancer (HNC) risk. However, the results remained controversial. Therefore, we performed a meta-analysis to derive a more precise evaluation of the association between TNF-α-308G/A polymorphism and overall HNC risk and evaluated influence of cancer types and ethnicities. METHODS: A systematic literature search was performed using Pubmed, Embase, Cochrane Library, and Web of science...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28640128/association-between-polymorphic-cag-repeat-lengths-in-the-androgen-receptor-gene-and-susceptibility-to-prostate-cancer-a-systematic-review-and-meta-analysis
#16
Zhiqiang Qin, Xiao Li, Peng Han, Yuxiao Zheng, Hanyu Liu, Jingyuan Tang, Chengdi Yang, Jianzhong Zhang, Kunpeng Wang, Xiaokang Qi, Min Tang, Wei Wang, Wei Zhang
BACKGROUND: Previous studies have been conducted to reveal the relationship between androgen receptor CAG polymorphism and risk of prostate cancer, yet the results were elusive and controversial. Thus, this meta-analysis was performed to clarify this association. METHODS: To obtain the relevant available studies, online databases PubMed, Embase, and Web of science were searched until September 1st, 2016. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639054/a-strong-relationship-between-oral-squamous-cell-carcinoma-and-dna-repair-genes
#17
Hakan Avci, Arzu Ergen, Elif Sinem Bireller, Baris Ertugrul, Bedia Cakmakoglu
Single nucleotide polymorphisms of DNA repair genes alter protein function and modulate DNA repair efficiency in various cancers. The X-ray repair cross-complementing group (XRCC) is responsible for the repair of DNA base damage and single-strand breaks. The aim of our study was to investigate the association of XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms with the susceptibility to develop oral squamous cell carcinoma (OSCC) in Turkish subjects. One hundred eleven patients with OSCC and 148 healthy controls were recruited for the study...
June 21, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28638732/serum-levels-of-soluble-programmed-death-protein-1-spd-1-and-soluble-programmed-death-ligand-1-spd-l1-in-advanced-pancreatic-cancer
#18
Stephan Kruger, Marie-Louise Legenstein, Verena Rösgen, Michael Haas, Dominik Paul Modest, Christoph Benedikt Westphalen, Steffen Ormanns, Thomas Kirchner, Volker Heinemann, Stefan Holdenrieder, Stefan Boeck
Up to now, the efficacy of programmed death protein 1/programmed death ligand 1 (PD-1/PD-L1) blockade in pancreatic cancer (PC) remains uncertain. Serum levels of soluble PD-1 and PD-L1 (sPD-1/sPD-L1) have been reported to be independent prognostic factors in solid tumors susceptible to checkpoint blockade. Provenience, regulation and immunologic function of sPD-1 and sPD-L1 in cancer are poorly understood. To the best of our knowledge, sPD-1 and sPD-L1 have not been measured conjointly in any cancer type yet...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28638257/xrcc1-gene-polymorphisms-and-mir-21-expression-in-patients-with-colorectal-carcinoma
#19
Hanan Fouad, Dina Sabry, Heba Morsi, Hany Shehab, Naglaa F Abuzaid
OBJECTIVE: The objectives of this study were to evaluate the impact of two X-ray repair cross complementing 1 (XRCC1) gene polymorphisms (Arg194Trp and Arg399Gln) on the risk of development of colorectal cancer (CRC) and to assess the expression levels of microRNA-21 (miR-21) in CRC patients. MATERIALS AND METHODS: A case-control cross sectional study was conducted on 50 CRC patients and 50 cancer-free subjects. DNA and miR-21 were extracted from whole blood samples...
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28637795/genome-wide-association-studies-of-cancer-in-diverse-populations
#20
Sungshim L Park, Iona Cheng, Christopher A Haiman
Genome-wide association studies (GWAS) of cancer have identified more than 700 risk loci, of which ~80% of were first discovered in European ancestry populations, ~15% in East Asians, 3% in multiethnic scans, and less than 1% in African and Latin American populations. These percentages closely mirror the distribution of samples included in the discovery phase of cancer GWAS to date (84% European, 11% East Asian, 4% African and 1% Latin American ancestry). GWAS in non-European populations have provided insight into ancestry-specific variation in cancer and have pointed to regions of susceptibility that are of particular importance in certain populations...
June 21, 2017: Cancer Epidemiology, Biomarkers & Prevention
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