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https://www.readbyqxmd.com/read/29675970/does-hypoxia-inducible-factor-1-%C3%AE-hif-1-%C3%AE-c1772t-polymorphism-predict-short-term-prognosis-in-patients-with-oral-squamous-cell-carcinoma-oscc
#1
Jitender Prasad, Binita Goswami, Srinivas H Gowda, Nikhil Gupta, Shilpa Kumar, Kiran Agarwal, Pravesh Mehra, Bindiya K Pahuja, Anju Chauhan
BACKGROUND: Oral squamous cell carcinoma (OSCC) is a cancer of the oral cavity that is a major health problem in India. There is an urgent need to identify biomarkers that have prognostic significance. We studied HIF1 α levels as well as single nucleotide polymorphism of HIF1α gene in cancer and healthy controls. METHODS: Fifty newly diagnosed OSCC patients and 50 age and sex matched healthy control were included in the study. Serum concentrations of HIF1 α were measured by sandwich ELISA; whereas HIF1 α gene polymorphism study was done using restriction enzyme digestion by HpH I...
April 20, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29675414/spondyloarthritis-acute-anterior-uveitis-and-fungi-updating-the-catterall-king-hypothesis
#2
Martin Laurence, Mark Asquith, James T Rosenbaum
Spondyloarthritis is a common type of arthritis which affects mostly adults. It consists of idiopathic chronic inflammation of the spine, joints, eyes, skin, gut, and prostate. Inflammation is often asymptomatic, especially in the gut and prostate. The HLA-B*27 allele group, which presents intracellular peptides to CD8+ T cells, is by far the strongest risk factor for spondyloarthritis. The precise mechanisms and antigens remain unknown. In 1959, Catterall and King advanced a novel hypothesis explaining the etiology of spondyloarthritis: an as-yet-unrecognized sexually acquired microbe would be causing all spondyloarthritis types, including acute anterior uveitis...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29675105/association-of-wwox-rs9926344-polymorphism-with-poor-prognosis-of-hepatocellular-carcinoma
#3
Wanyong Chen, Chenhao Zhou, Wentao Zhang, Manar Atyah, Yirui Yin, Lei Guo, Weiguo Tang, Qiongzhu Dong, Qinghai Ye, Ning Ren
Introduction: The WW domain-containing oxidoreductase (WWOX), widely expressed in human tissues, is considered as a tumor suppressor gene and plays an important role in the incidence and progression of human cancer, HCC included. This study was to investigate the correlation between single nucleotide polymorphisms (SNPs) of the WWOX gene and the prognosis of hepatocellular carcinoma (HCC) patients. Materials and Methods: After a total of 152 HCC patients were recruited, 8 cases with tumor recurrence within 2-years after operation and 8 cases without recurrence were selected randomly for SNP genotyping and screening using Affymetrix Array 6...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29675043/cardiovascular-risk-factors-after-childhood-cancer-treatment-are-independent-of-the-fto-gene-polymorphism
#4
Małgorzata Sawicka-Żukowska, Maryna Krawczuk-Rybak, Paweł Bernatowicz, Katarzyna Muszyńska-Rosłan, Jerzy Konstantynowicz, Włodzimierz Łuczyński
The study objective was to assess the prevalence of cardiovascular disease risk factors in patients treated for childhood cancer ( N = 101) and to determine the involvement of clinical (cancer type and therapy) and/or genetic ( FTO gene rs9939609 polymorphism) factors. Anthropometric features, laboratory findings, and standardized osteodensitometric indices (fat and lean mass) were considered. Overweight/obesity was found in 17.82% of the patients; however, central adiposity was found in as many as 42.5%. At least one abnormality in lipid metabolism was observed in 35...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29673865/tagging-snps-in-the-hotair-gene-are-associated-with-bladder-cancer-risk-in-a-chinese-population
#5
Xiang Wang, Wenying Wang, Qiang Zhang, Damin Gu, Ke Zhang, Yuqiu Ge, Haiyan Chu, Mulong Du, Bin Xu, Meilin Wang, Xu Lv, Zhengdong Zhang, Lin Yuan, Weida Gong
BACKGROUND: The HOX transcript antisense intergenic RNA (HOTAIR) is a well-known long noncoding RNA (lncRNA) that plays a critical role in biological processes in most cancers. However, the function of HOTAIR in bladder cancer remains largely unknown. In this study, we hypothesize that tag single nucleotide polymorphisms (tagSNPs) in HOTAIR are associated with bladder cancer (BCa) risk. METHODS: We performed a hospital-based case-control study of 1050 cases and 1407 controls to investigate the associations between tagSNPs and the risk of BCa in a Chinese population...
April 16, 2018: Gene
https://www.readbyqxmd.com/read/29670073/polymorphisms-of-the-ras-association-domain-family-1-isoform-a-rassf1a-gene-are-associated-with-ovarian-cancer-and-with-the-prognostic-factors-of-grade-and-stage-in-women-in-southern-china
#6
Wei He, Pengyuan Zhang, Min Ye, Zhikang Chen, Yizi Wang, Jie Chen, Fengjuan Yao
BACKGROUND The aim of this study was to determine whether polymorphisms of the Ras-association domain family 1 isoform A (RASSF1A) gene were associated with ovarian cancer and with tumor grade and stage, which affect the prognosis of ovarian cancer, in women in Southern China. MATERIAL AND METHODS Women from Southern China with histologically confirmed, graded and staged ovarian cancer (n=1,375), and cancer-free controls (n=1,227), provided samples of peripheral blood. DNA was extracted from the blood samples, and five tagging single nucleotide polymorphisms (SNPs) (rs4688728G>T, rs72932987C>T, rs1989839C>T, rs2073497A>C, and rs2236947A>C) were evaluated using an online assay-by-design platform...
April 19, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29669843/the-association-of-polymorphisms-in-nucleotide-excision-repair-genes-with-ovarian-cancer-susceptibility
#7
Zhiguang Zhao, Anqi Zhang, Yuan Zhao, Junmiao Xiang, Danyang Yu, Zongwen Liang, Chaoyi Xu, Qiong Zhang, Jianmin Li, Ping Duan
Nucleotide excision repair (NER), the core mechanism of DNA repair pathway, was commonly used to maintain genomic stability and prevent tumorigenesis. Previous investigations have demonstrated that single nucleotide polymorphisms (SNPs) of NER pathway genes were associated with various types of cancer. However, there was no research elucidating the genetic association of entire NER pathway with ovarian cancer susceptibility. Therefore, we conducted genotyping for 17 SNPs of six NER core genes (XPA, XPC, XPG, ERCC1, ERCC2 and ERCC4) in 89 ovarian cancer cases and 356 cancer-free controls...
April 18, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29669262/dna-mismatch-repair-in-cancer
#8
REVIEW
Marina Baretti, Dung T Le
Microsatellite instability (MSI) refers to the hypermutator phenotype secondary to frequent polymorphism in short repetitive DNA sequences and single nucleotide substitution, as consequence of DNA mismatch repair (MMR) deficiency. MSI secondary to germline mutation in DNA MMR proteins is the molecular fingerprint of Lynch Syndrome (LS), while epigenetic inactivation of these genes is more commonly found in sporadic MSI tumors. MSI occurs at different frequencies across malignancies, although original methods to assess MSI or MMR deficiency have been developed mostly in LS related cancers...
April 15, 2018: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29669169/genetic-testing-for-hereditary-prostate-cancer-current-status-and-limitations
#9
REVIEW
Jun Tu Zhen, Jamil Syed, Kevin Anh Nguyen, Michael S Leapman, Neeraj Agarwal, Karina Brierley, Xavier Llor, Erin Hofstatter, Brian Shuch
A significant proportion of prostate cancer diagnoses may be associated with a strong hereditary component. Men who have multiple single-gene polymorphisms and a family history of prostate cancer have a significantly greater risk of developing prostate cancer. Numerous single-gene alterations have been confirmed to increase the risk of prostate cancer. These include breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively), mutL homolog 1 (MLH1), mutS homologs 2 and 6 (MSH2 and MSH6, respectively), postmeiotic segregation increased 2 (PMS2), homeobox B13 (HOXB13), checkpoint kinase 2 (CHEK2), nibrin (NBN), BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and ataxia telangiectasia mutated (ATM)...
April 18, 2018: Cancer
https://www.readbyqxmd.com/read/29669044/polymorphisms-of-arsenic-3-oxidation-state-methyltransferase-and-arsenic-methylation-capacity-affect-the-risk-of-bladder-cancer
#10
Ying-Chin Lin, Wei-Jen Chen, Chao-Yuan Huang, Horng-Sheng Shiue, Chien-Tien Su, Pui-Lam Ao, Yeong-Shiau Pu, Hsueh Yu-Mei
The mechanisms underlying how arsenic methylation capacity affects bladder cancer (BC) are still unclear. The objective of this study was to explore the effects of polymorphisms of arsenic (+3 oxidation state) methyltransferase (AS3MT) on BC risk. We conducted a hospital-based study and enrolled 216 BC and 813 healthy controls from 2007 to 2011. Urinary arsenic profiles were measured using high-performance liquid chromatography-hydride generation-atomic absorption spectrometry. The gene polymorphisms of AS3MT were identified using the Sequenom MassARRAY platform with iPLEX Gold chemistry...
April 14, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29667729/hla-dqb1-03-genotype-and-perioperative-blood-transfusion-are-not-conducive-to-the-prognosis-of-patients-with-gastric-cancer
#11
Shen-Kang Zhou, Lei-Lei Yang, Rui Chen, Yong Lu, Yong-Hua Zheng
BACKGROUND: Gastric cancer (GC) is a disease associated with a higher incidence and mortality, and some host genetic polymorphisms have been reported as potential factors contributing to the development of GC. In view of this, the study was conducted to investigate the effects of HLA-DQB1 gene polymorphisms and perioperative blood transfusion on prognosis of patients with gastric cancer (GC). METHODS: A total of 142 patients with GC (case group) and 150 healthy controls (control group) were enrolled...
April 18, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29666399/genotype-b-of-killer-cell-immunoglobulin-like-receptor-is-related-with-gastric-cancer-lesions
#12
Eric G Hernandez, Oswaldo Partida-Rodriguez, Margarita Camorlinga-Ponce, Miriam Nieves-Ramirez, Irma Ramos-Vega, Javier Torres, Martha Perez-Rodriguez
NK cells are important in innate immunity for their capacity to kill infected or cancer cells. The killer cell immunoglobulin-like receptors (KIR) are a family of polymorphic genes with inhibitory and activating functions. The main driving force for gastric cancer (GC) development is a chronic response, which causes an increase of NK cells in the gastric mucosa. The aim of this work was to study polymorphisms in KIR genes in patients with either GC or non-atrophic gastritis (NAG). We studied 242 patients (130 with NAG and 112 with GC) and contrasted with 146 asymptomatic individuals...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666321/glutathione-s-transferase-m1-and-t1-null-genotype-frequency-distribution-among-four-tribal-populations-of-western-india
#13
Prem Chandra Suthar, Pulakes Purkait, Kiran Uttaravalli, B N Sarkar, Rakshit Ameta, Mithun Sikdar
Glutathione S transferase (GST) family is a key contributor in the detoxification mechanism of our body.Deletion of the genes within this family has been reported in the failure of detoxification system, to some extent leading to various types of cancers and other life threatening diseases. The existing data and reports on the association of null genotype of both GSTM1 and GSTT1 genes for various diseases are inconsistent. But knowledge of the polymorphic distributions of genotypes in different populations is important for investigating the risk factors in different epidemiological studies...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29664240/polymorphisms-of-dna-repair-genes-are-associated-with-colorectal-cancer-in-patients-with-lynch-syndrome
#14
Abram B Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Jeng-Fu You, Wen-Chang Wang, Chao A Hsiung, Chih-Ching Yeh
BACKGROUND: DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in Chinese population with Lynch syndrome. METHODS: From Amsterdam criteria family registry, we identified 270 patients with Lynch syndrome...
April 17, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29664031/association-of-330-interleukin-2-gene-polymorphism-with-oral-cancer
#15
Prithvi Kumar Singh, Vijay Kumar, Mohammad Kaleem Ahmad, Rajni Gupta, Abbas Ali Mahdi, Amita Jain, Jaishri Bogra, Girish Chandra
Background & objectives: Cytokines play an important role in the development of cancer. Several single-nucleotide polymorphisms (SNPs) of cytokine genes have been reported to be associated with the development and severity of inflammatory diseases and cancer predisposition. This study was undertaken to evaluate a possible association of interleukin 2 (IL-2) (- 330A>C) gene polymorphisms with the susceptibility to oral cancer. Methods: The SNP in IL-2 (-330A>C) gene was genotyped in 300 oral cancer patients and in similar number of healthy volunteers by polymerase chain reaction (PCR)-restriction fragment length polymorphism and the association of the gene with the disease was evaluated...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29662639/polymorphisms-in-ber-genes-and-risk-of-breast-cancer-evidences-from-69-studies-with-33760-cases-and-33252-controls
#16
Lele Qiao, Xiaoshan Feng, Gongping Wang, Bo Zhou, Yantong Yang, Mengxiang Li
Recently, numerous studies have reported an association between single nucleotide polymorphisms in base-excision repair genes and the risk of developing breast cancer, however there is no consensus. The aim of this meta-analysis was to review and quantitatively assess the relationship between single nucleotide polymorphisms in base-excision repair genes and breast cancer risk. The results suggested that a mutation of T to G in rs1760944 may lead to a higher risk of developing breast cancer in the Mongoloid population, and G to A of rs25487 significantly reduced the risk of breast cancer in Mongoloid and Caucasoid populations...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29662106/pharmacogenetics-of-platinum-based-chemotherapy-impact-of-dna-repair-and-folate-metabolism-gene-polymorphisms-on-prognosis-of-non-small-cell-lung-cancer-patients
#17
Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Ahmed Alnatsha, Eduardo Villar, Javier Valdivia-Bautista, María José Faus-Dáder, Miguel Ángel Calleja-Hernández
Chemotherapy based on platinum compounds is the standard treatment for NSCLC patients with EGFR wild type, and is also used as second line in mutated EGFR patients. Nevertheless, this therapy presents poor clinical outcomes. ERCC1, ERCC2, XRCC1, MDM2, MTHFR, MTR, and SLC19A1 gene polymorphisms may contribute to individual variation in response and survival to platinum-based chemotherapy. The aim of this study was to investigate the influence of these polymorphisms on response and survival of NSCLC patients treated with platinum-based chemotherapy...
April 17, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29653063/functional-evaluation-of-znf350-missense-genetic-variants-associated-with-breast-cancer-susceptibility
#18
Nasha Zhang, Youhua Lu, Xijun Liu, Dianke Yu, Zheng Lv, Ming Yang
ZNF350, a BRCA1-interacting protein, could mediate BRCA1-induced sequence-specific transcriptional repression of several genes, including GADD45α. As a potential breast cancer susceptibility gene, single nucleotide polymorphisms (SNPs), especially missense SNPs, may influence the transcriptional repression of its target tumor suppressor genes and individuals' breast cancer risk. Using the gene-based haplotype-tagging SNPs strategy, we evaluated the association between six ZNF350 polymorphisms and breast cancer risk in a case-control set from a northern Chinese population...
April 13, 2018: DNA and Cell Biology
https://www.readbyqxmd.com/read/29652996/-association-of-programmed-cell-death-1-pdcd1-gene-polymorphisms-with-colorectal-cancer-among-han-chinese-population
#19
Yuancun Zhao, Zhigang Mao, Hua Pang, Xiaohong Zhao, Shu Zhang, Zehua Gao, Yiwen Yang, Ting Fang, Qizhao Ma, Xiaodan Ma, Yufang Wang, Ji Zhang
OBJECTIVE: To assess the association of programmed cell death 1 (PDCD1) gene polymorphisms with the susceptibility and/or progression of colorectal cancer. METHODS: A hospital-based case-control study was carried out, which recruited 426 colorectal cancer patients and 500 healthy individuals. Five single nucleotide polymorphisms, namely rs36084323, rs11568821, rs2227981, rs2227982 and rs10204525, were selected for the study and genotyped with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652514/-nqo1-gene-c609t-polymorphism-dbsnp-rs1800566-and-digestive-tract-cancer-risk-a-meta-analysis
#20
Upendra Yadav, Pradeep Kumar, Vandana Rai
Several studies reported that polymorphism C609T (rs1800566) in (NAD(P)H): quinoneoxidoreductase 1 (NQO1) gene is associated with risk to digestive tract (DT) cancers, like esophageal cancer (EC), gastric cancer (GC), and colorectal cancer (CRC). Authors conducted a meta-analysis to investigate association between C609T polymorphism and DT cancer risk. Eligible studies were extracted from the databases of PubMed, Google Scholar, Science Direct, and Springer Link. All retrieved articles were evaluated. All statistical analyses were performed using Open Meta-Analyst and MIX1...
April 13, 2018: Nutrition and Cancer
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