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Gene, cancer, polymorphism

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https://www.readbyqxmd.com/read/28212577/irs-2-rs1805097-polymorphism-is-associated-with-the-decreased-risk-of-colorectal-cancer
#1
Jiefeng Yin, Zhe Zhang, Huajun Zheng, Lei Xu
Recent studies explored the association between insulin receptor substrate-2 (IRS-2) gene rs1805097 polymorphism and colorectal cancer (CRC) with contradictory findings. Therefore, we conducted a comprehensive meta-analysis by searching the databases of PubMed and Embase. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by using fixed-effect or random-effect models. A total of 5 citations containing 6 case-control studies involving 4,333 cases and 5,333 controls were included. Our data indicated that IRS-2 rs1805097 polymorphism was associated with decreased risk of CRC...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212542/two-stage-genome-wide-association-study-identifies-a-novel-susceptibility-locus-associated-with-melanoma
#2
Katherine J Ransohoff, Wenting Wu, Hyunje G Cho, Harvind C Chahal, Yuan Lin, Hong-Ji Dai, Christopher I Amos, Jeffrey E Lee, Jean Y Tang, David A Hinds, Jiali Han, Qingyi Wei, Kavita Y Sarin
Genome-wide association studies have identified 21 susceptibility loci associated with melanoma. These loci implicate genes affecting pigmentation, nevus count, telomere maintenance, and DNA repair in melanoma risk. Here, we report the results of a two-stage genome-wide association study of melanoma. The stage 1 discovery phase consisted of 4,842 self-reported melanoma cases and 286,565 controls of European ancestry from the 23andMe research cohort and the stage 2 replication phase consisted of 1,804 melanoma cases and 1,026 controls from the University of Texas M...
February 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212531/msmb-gene-rs10993994-polymorphism-increases-the-risk-of-prostate-cancer
#3
Tao Peng, Lifeng Zhang, Lijie Zhu, Yuan-Yuan Mi
Genome-wide association studies (GWASs) identified microseminoprotein-β (MSMB) gene rs10993994 polymorphism was significantly associated with prostate cancer (PC) risk. However, the association between MSMB gene rs10993994 polymorphism and PC risk remains controversial. Therefore, we performed a systematic review and meta-analysis by searching in the databases of PubMed, and Embase. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by using fixed-effect or random-effect models. A total of 11 publications containing 13 case-control studies for rs10993994 polymorphism were included in our analysis...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212442/ecto-5-nucleotidase-cd73-nt5e-vitamin-d-receptor-and-fgf23-gene-polymorphisms-may-play-a-role-in-the-development-of-calcific-uremic-arteriolopathy-in-dialysis-patients-data-from-the-german-calciphylaxis-registry
#4
Hansjörg Rothe, Vincent Brandenburg, Margot Haun, Barbara Kollerits, Florian Kronenberg, Markus Ketteler, Christoph Wanner
INTRODUCTION: Calciphylaxis/calcific uremic arteriolopathy affects mainly end-stage kidney disease patients but is also associated with malignant disorders such as myeloma, melanoma and breast cancer. Genetic risk factors of calciphylaxis have never been studied before. METHODS: We investigated 10 target genes using a tagging SNP approach: the genes encoding CD73/ ecto-5'-nucleotidase (purinergic pathway), Matrix Gla protein, Fetuin A, Bone Gla protein, VKORC1 (all related to intrinsic calcification inhibition), calcium-sensing receptor, FGF23, Klotho, vitamin D receptor, stanniocalcin 1 (all related to CKD-MBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28211612/genetic-variants-in-the-plasminogen-activator-inhibitor-1-gene-are-associated-with-an-increased-risk-of-radiation-pneumonitis-in-lung-cancer-patients
#5
Bo Liu, Yang Tang, Minxiao Yi, Qingxu Liu, Huihua Xiong, Guangyuan Hu, Xianglin Yuan
Plasminogen activator inhibitor-1 (PAI-1) plays a crucial role in the process of lung injury, although its association with radiation pneumonitis (RP) is unclear. We hypothesized that genetic variants in PAI-1 may influence the risk of RP. In this study, 169 lung cancer patients were genotyped for six single-nucleotide polymorphisms in PAI-1 using the Sequenom MassARRAY system. The risk of RP was evaluated by Cox proportional hazards analyses. The cumulative RP probabilities by genotype were assessed using Kaplan-Meier analyses...
February 17, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28206971/impact-of-vascular-endothelial-growth-factor-gene-gene-and-gene-smoking-interaction-and-haplotype-combination-on-bladder-cancer-risk-in-chinese-population
#6
Dian Fu, Ping Li, Wen Cheng, Feng Tian, Xiaofeng Xu, Xiaoming Yi, Chaopeng Tang, Yongzhong Wang, Quansheng Hu, Zhengyu Zhang
AIMS: To investigate the association of single nucleotide polymorphisms (SNPs) within vascular endothelial growth factor (VEGF) gene polymorphisms, additional gene- gene and gene- smoking interactions with bladder cancer risk. RESULTS: Bladder cancer risk was significantly higher in carriers of the rs699947- A allele within VEGF gene than those with rs699947- CC genotype (CA+ AA versus CC), adjusted OR (95%CI) = 1.70 (1.16-2.31), and higher in carriers of the rs833052- A allele of within VEGF gene than those with rs833052- CC genotype (CA+ AA versus CC), adjusted OR (95%CI) = 1...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28206966/impact-of-dna-repair-gene-polymorphisms-on-the-risk-of-biochemical-recurrence-after-radiotherapy-and-overall-survival-in-prostate-cancer
#7
Chiara Zanusso, Roberto Bortolus, Eva Dreussi, Jerry Polesel, Marcella Montico, Erika Cecchin, Sara Gagno, Flavio Rizzolio, Mauro Arcicasa, Giacomo Novara, Giuseppe Toffoli
The identification of biomarkers of biochemical recurrence (BCR) in prostate cancer (PCa) patients undergoing radiotherapy (RT) represents an unanswered clinical issue. The primary aim of this study was the definition of new genetic prognostic biomarkers in DNA repair genes (DRGs), considering both BCR and overall survival (OS) as clinical end-points. The secondary aim was to explore the potential clinical impact of these genetic variants with the decision curve analysis (DCA) and the sensitivity analysis.We analyzed 22 germline polymorphisms in 14 DRGs on 542 Caucasian PCa patients treated with RT as primary therapy...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28203294/correlation-between-nad-p-h-quinone-oxidoreductase-1-c609t-polymorphism-and-increased-risk-of-esophageal-cancer-evidence-from-a-meta-analysis
#8
Jingfang Diao, Jie Bao, Jianxin Peng, Jiaqiang Mo, Qing Ye, Junming He
NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T gene polymorphisms have been reported to influence the risk for esophageal cancer (EC) in many studies. However, the results remain controversial and ambiguous. We performed a meta-analysis, which included 13 independent studies with a total of 2357 subjects, to examine the association between NQO1 C609T polymorphism and EC. The association was assessed by five different gene models. The overall analysis suggested that the variant allele and genotypes were significantly related to increased risk of EC (odds ratio [OR] T versus C = 1...
January 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/28199751/impact-of-polymorphisms-in-angiogenesis-related-genes-on-clinical-outcomes-of-radiotherapy-in-patients-with-nasopharyngeal-carcinoma
#9
Wan-Le Ma, Rong Liu, Li-Hua Huang, Chan Zou, Jie Huang, Jing Wang, Shao-Jun Chen, Xiang-Guang Meng, Jing-Ke Yang, Han Li, Guo-Ping Yang, Cheng-Xian Guo
PURPOSE: To assess the relationship between gene polymorphism in angiogenesis-related genes and radiation responses in nasopharyngeal carcinoma (NPC) patients. METHODS: The genotypes of 180 NPC patients were analyzed by Sequenom MassARRAY. The Response Evaluation Criteria in Solid Tumors were used for assessing efficacies. And The criteria of Radiation Therapy Oncology Group or European Organization for Research & Treatment of Cancer were utilized for evaluating acute toxic reactions in response to radiation...
February 15, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28199328/association-of-pvuii-and-xbai-polymorphisms-on-estrogen-receptor-alpha-esr1-gene-to-changes-into-serum-lipid-profile-of-post-menopausal-women-effects-of-aging-body-mass-index-and-breast-cancer-incidence
#10
Neuza Felix Gomes-Rochette, Letícia Soncini Souza, Bruno Otoni Tommasi, Diego França Pedrosa, Sérgio Ragi Eis, Irani do Carmo Francischetto Fin, Fernando Luiz Herkenhoff Vieira, Jones Bernardes Graceli, Letícia Batista Azevedo Rangel, Ian Victor Silva
Estrogen is a steroidal hormone involved in several physiological functions in the female body including regulation of serum lipid metabolism and breast cancer (BC). Estrogen actions on serum lipids mostly occur through its binding to intracellular Estrogen Receptor alpha (ERalpha) isoform, expressed in most of tissues. This gene (ESR1) exhibit many polymorphic sites (SNPs) located either on translated and non-translated regions that regulate ERalpha protein expression and function. This paper aimed to investigate the association of two intronic SNPs of ESR1 gene, namely c454-397T>C (PvuII) and c454-351A>G (XbaI) to alterations in serum levels of total cholesterol (T-chol), total lipid (TL), low density lipoprotein cholesterol (LDL), high density lipoprotein (HDL), and triglycerides (TG) in a cohort of post-menopausal women...
2017: PloS One
https://www.readbyqxmd.com/read/28198496/association-between-gstm1-gstt1-and-gstp1-polymorphisms-and-gastric-cancer-risk-and-their-interactions-with-environmental-factors
#11
Z H Chen, J F Xian, L P Luo
Glutathione S-transferase (GST) is an important member of phase II metabolic enzymes; GSTM1, GSTT1, and GSTP1 belong to three subfamilies of the GST enzyme. Polymorphisms in GSTM1, GSTT1, and GSTP1 could affect detoxification processes, and increase individuals' susceptibility to cancers. We aimed to investigate the association between GSTM1, GSTT1, and GSTP1 polymorphisms and the risk of gastric cancer in a Chinese population. In addition, we also examined the effect of gene-environmental interactions, and their effect on risk of this cancer...
February 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28195643/clinical-and-genetic-predictors-of-weight-gain-in-patients-diagnosed-with-breast-cancer
#12
Maureen Sadim, Yanfei Xu, Katharina Selig, Julie Paulus, Regina Uthe, Surbhi Agarwl, Iram Dubin, Panagiota Oikonomopoulou, Lesya Zaichenko, Silvia Aki McCandlish, Linda Van Horn, Christos Mantzoros, Donna Pauler Ankerst, Virginia G Kaklamani
BACKGROUND: Postdiagnosis weight gain in patients with breast cancer has been associated with increased cancer recurrence and mortality. This study was designed to identify risk factors for weight gain and create a predictive model to identify a high-risk population for targeted interventions. METHODS: The weight of 393 patients with breast cancer from the Northwestern Robert H. Lurie Cancer Center was measured over a 2-year period from diagnosis, with body mass index (BMI) change over 18 months as the primary endpoint...
February 14, 2017: Cancer
https://www.readbyqxmd.com/read/28190851/circulating-leptin-soluble-leptin-receptor-free-leptin-index-visfatin-and-selected-leptin-and-leptin-receptor-gene-polymorphisms-in-sporadic-breast-cancer
#13
Chrishani Rodrigo, Kamani Hemamala Tennekoon, Eric Hamilton Karunanayake, Kanishka De Silva, Indrani Amarasinghe, Ananda Wijayasiri
Leptin and visfatin are implicated in breast cancer risk but studies accounting for bioavailability of leptin are sparse. Reports on the association of leptin gene (LEP) and leptin receptor gene (LEPR) polymorphisms with breast cancer are also inconsistent. Only a very few studies have examined biochemical and genetic variables concomitantly in the same cohort. A matched pairs study was carried out to ascertain whether plasma leptin, soluble leptin receptor, free leptin index (leptin/soluble leptin receptor), serum visfatin and selected LEP and LEPR polymorphisms are risk factors for sporadic breast cancer...
February 11, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28188128/interaction-landscape-of-inherited-polymorphisms-with-somatic-events-in-cancer
#14
Hannah Carter, Rachel Marty, Matan Hofree, Andy Gross, James Jensen, Kathleen M Fisch, Xingyu Wu, Christopher DeBoever, Eric L Van Nostrand, Yan Song, Emily Wheeler, Jason F Kreisberg, Scott M Lippman, Gene Yeo, J Silvio Gutkind, Trey Ideker
Recent studies have characterized the extensive somatic alterations that arise during cancer. However, the somatic evolution of a tumor may be significantly affected by inherited polymorphisms carried in the germline. Here, we analyze genomic data for 5954 tumors to reveal and systematically validate 412 genetic interactions between germline polymorphisms and major somatic events, including tumor formation in specific tissues and alteration of specific cancer genes. Among germline-somatic interactions, we find germline variants in RBFOX1 that increase incidence of SF3B1 somatic mutation by eight-fold via functional alterations in RNA splicing...
February 10, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28188049/gene-polymorphism-related-individual-and-interracial-differences-in-the-outcomes-of-androgen-deprivation-therapy-for-prostate-cancer
#15
REVIEW
Naohiro Fujimoto, Masaki Shiota, Ikko Tomisaki, Akinori Minato
Among patients with prostate cancer, the prognosis after androgen deprivation therapy differs significantly among individuals and among races; however, the reasons underlying these differences are poorly understood. Several single nucleotide polymorphisms in genes associated with prostate cancer progression or castration resistance might serve as the host factor that influences prognosis and, thus, accounts for these individual and racial gaps in treatment outcomes. Accordingly, single nucleotide polymorphisms associated with treatment outcomes could be used as predictive and/or prognostic biomarkers for patient stratification and to identify personalized treatment and follow-up protocols...
January 18, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28187455/association-between-rs2853669-in-tert-gene-and-the-risk-and-prognosis-of-human-cancer-a-systematic-review-and-meta-analysis
#16
Na Shen, Yanjun Lu, Xiong Wang, Jing Peng, Yaowu Zhu, Liming Cheng
The polymorphism rs2853669 within the promoter of telomerase reverse transcriptase gene (TERTp) has been debated about its role in cancer risk and prognosis. Additionally, several studies report inconsistent results concerning the modifying effect of rs2853669 on the prognostic value of TERTp mutations in cancer patients. Here, we performed this meta-analysis to comprehensively evaluate the role of rs2853669 in the risk and prognosis of human cancer, and further assess its modifying impact on TERTp mutations in the survival of cancer patients...
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28184178/effect-of-rage-gene-polymorphisms-and-circulating-srage-levels-on-susceptibility-to-gastric-cancer-a-case-control-study
#17
Taijie Li, Weijuan Qin, Yanqiong Liu, Shan Li, Xue Qin, Zhiming Liu
BACKGROUND: To investigate the influence of polymorphisms in the receptor for advanced glycation end products (RAGE) gene and circulating soluble RAGE (sRAGE) levels on susceptibility to gastric cancer, and identify whether these polymorphisms were correlated with serum sRAGE levels. METHODS: We performed a hospital-based case-control study involving 200 gastric cancer patients and 207 cancer-free controls. Four well-characterized RAGE genetic polymorphisms, namely, rs1800624, rs1800625, rs184003, and rs2070600 were genotyped by PCR-RFLP...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28184030/genetic-variants-in-rhoa-and-rock1-genes-are-associated-with-the-development-progression-and-prognosis-of-prostate-cancer
#18
Kang Liu, Xiao Li, Jie Wang, Yichun Wang, Huiyu Dong, Jie Li
The contribution of genetic variants in RhoA and ROCK1 genes towards prostate cancer risk has not been reported before. We genotyped six potentially functional genetic variants in a case-control study of 1699 subjects. Overall, we found rs2410 mutant allele and rs2269736 wild allele were risk factors for prostate cancer. Individuals carrying more than two risk alleles were exposed to hazard of prostate cancer. In addition, we demonstrated that the risk of biochemical recurrence might be linked with clinico-pathological characteristics and also genetic factors...
February 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28183252/pharmacological-profile-and-pharmacogenomics-of-anti-cancer-drugs-used-for-targeted-therapy
#19
Raffaele Di Francia, Angela De Monaco, Mariangela Saggese, Giancarla Iaccarino, Stefania Crisci, Ferdinando Frigeri, Rosaria De Filippi, Massimiliano Berretta, Antonio Pinto
Drugs for targeted therapies are primarily Small Molecules Inhibitors (SMIs), monoclonal antibodies (mAbs), interfering RNA molecules and microRNA. The use of these new agents generates a multifaceted step in the pharmacokinetics (PK) of these drugs. Individual PK variability is often large, and unpredictability observed in the response to the pharmacogenetic profile of the patient (e.g. cytochome P450 enzyme), patient characteristics such as adherence to treatment and environmental factors. Objective This review aims to overview the latest anticancer drugs eligible for targeted therapies and the most recent finding in pharmacogenomics related to toxicity/resistance because either individual gene polymorphisms or acquired mutation in a cancer cell...
February 8, 2017: Current Cancer Drug Targets
https://www.readbyqxmd.com/read/28182962/an-observational-study-of-the-impact-of-genetic-testing-for-pain-perception-in-the-clinical-management-of-chronic-non-cancer-pain
#20
Maneesh Sharma, Svetlana Kantorovich, Chee Lee, Natasha Anand, John Blanchard, Eric T Fung, Brian Meshkin, Ashley Brenton, Steven Richeimer
OBJECTIVE: Pain levels are a key metric in clinical care. However, the assessment of pain is limited to basic questionnaires and physician interpretation, which yield subjective data. Genetic markers of pain sensitivity, such as single nucleotide polymorphisms in the catechol-O-methyltransferase gene, have been shown to be associated with pain perception and have been used to provide objective information about a patient's pain. The goal of this study was to determine if physician treatment adjustments based on genetic tests of pain perception resulted in improved outcomes for patients...
January 30, 2017: Journal of Psychiatric Research
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