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https://www.readbyqxmd.com/read/29471289/single-nucleotide-polymorphism-facilitated-down-regulation-of-the-cohesin-stromal-antigen-1-implications-for-colorectal-cancer-racial-disparities
#1
Somenath Datta, Richard M Sherva, Mart De La Cruz, Michelle T Long, Priya Roy, Vadim Backman, Sanjib Chowdhury, Hemant K Roy
The biological underpinnings for racial disparities in colorectal cancer (CRC) incidence remain to be elucidated. We have previously reported that the cohesin SA-1 down-regulation is an early event in colon carcinogenesis which is dramatically accentuated in African-Americans. In order to investigate the mechanism, we evaluated single nucleotide polymorphisms (SNPs) for association with SA-1-related outcomes followed by gene editing of candidate SNP. We observed that rs34149860 SNP was significantly associated with a lower colonic mucosal SA-1 expression and evaluation of public databases showed striking racial discordance...
February 19, 2018: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29470392/gja4-connexin-37-mutations-correlate-with-secondary-lymphedema-following-surgery-in-breast-cancer-patients
#2
Mahrooyeh Hadizadeh, Seiied Mojtaba Mohaddes Ardebili, Mansoor Salehi, Chris Young, Fariborz Mokarian, James McClellan, Qin Xu, Mohammad Kazemi, Elham Moazam, Behzad Mahaki, Maziar Ashrafian Bonab
Lymphedema is a condition resulting from mutations in various genes essential for lymphatic development and function, which leads to obstruction of the lymphatic system. Secondary lymphedema is a progressive and incurable condition, most often manifesting after surgery for breast cancer. Although its causation appears complex, various lines of evidence indicate that genetic predisposition may play a role. Previous studies show that mutations in connexin 47 are associated with secondary lymphedema. We have tested the hypothesis that connexin 37 gene mutations in humans are associated with secondary lymphedema following breast cancer surgery...
February 22, 2018: Biomedicines
https://www.readbyqxmd.com/read/29470314/genetic-variation-in-p2rx7-and-pain-tolerance
#3
O Kambur, M A Kaunisto, B S Winsvold, T Wilsgaard, A Stubhaug, J A Zwart, E Kalso, C S Nielsen
P2X7 is a non-selective cation channel activated by extracellular ATP. P2X7 activation contributes to the pro-inflammatory response to injury or bacterial invasion and mediates apoptosis. Recently, P2X7 function has been linked to chronic inflammatory and neuropathic pain. P2X7 may contribute to pain modulation both by effects on peripheral tissue injury underlying clinical pain states, and through alterations in central nervous system processing, as suggested by animal models. To further test its role in pain sensitivity, we examined whether variation within the P2RX7 gene, which encodes the P2X7 receptor, was associated with experimentally induced pain in human patients...
February 20, 2018: Pain
https://www.readbyqxmd.com/read/29467956/vitamin-d-receptor-taq-i-polymorphism-and-the-risk-of-prostate-cancer-a-meta-analysis
#4
Shaosan Kang, Yansheng Zhao, Lei Wang, Jian Liu, Xi Chen, Xiaofeng Liu, Zhijie Shi, Weixing Gao, Fenghong Cao
Numerous previous studies reported the association of Vitamin D receptor gene Taq I polymorphism with prostate cancer risk, however these results were controversial. In order to provide a relatively comprehensive description of this relationship, we conducted this meta-analysis by searching PubMed, Embase, and China National Knowledge Infrastructure. Finally, 36 studies with 8,423 cases and 8,887 controls were included. Taq I polymorphism was found to marginally increase the prostate cancer risk in recessive genetic model (tt/Tt vs...
January 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29467929/the-snps-in-pre-mirna-are-related-to-the-response-of-capecitabine-based-therapy-in-advanced-colon-cancer-patients
#5
Yong Mao, Chengda Zou, Fanyi Meng, Jiehong Kong, Weipeng Wang, Dong Hua
The single nucleotide polymorphisms (SNPs) in the microRNA precursor (pre-miRNA) may modulate the posttranscriptional regulation of gene expression and explain individual sensitivity to chemotherapy. Here we investigated the correlation between 23 SNPs in the pre-miRNA and the efficacy of capecitabine-based chemotherapy in 274 advanced colon cancer patients. Statistical analysis indicated that much more patients with rs744591 A/C(48.03%), C/C (53.45%) or C allele (49.73%) responded to the chemotherapy than those with the A/A genotype (33...
January 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29467187/-drosophila-larval-brain-neoplasms-present-tumour-type-dependent-genome-instability
#6
Fabrizio Rossi, Camille Stephan-Otto Attolini, Jose Luis Mosquera, Cayetano Gonzalez
Single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) are found at different rates in human cancer. To determine if these genetic lesions appear in Drosophila tumours we have sequenced the genomes of 17 malignant neoplasms caused by mutations in l(3)mbt, brat, aurA , or lgl We have found CNVs and SNPs in all the tumours. Tumour-linked CNVs range between 11 and 80 per sample, affecting between 92 and 1546 coding sequences. CNVs are in average less frequent in l(3)mbt than in brat lines. Nearly half of the CNVs fall within the 10 to 100Kb range, all tumour samples contain CNVs larger that 100 Kb and some have CNVs larger than 1Mb...
February 21, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29466429/population-nutrikinetics-of-green-tea-extract
#7
Catharina Scholl, Anna Lepper, Thorsten Lehr, Nina Hanke, Katharina Luise Schneider, Jürgen Brockmöller, Thomas Seufferlein, Julia Carolin Stingl
Green tea polyphenols may contribute to the prevention of cancer and other diseases. To learn more about the pharmacokinetics and interindividual variation of green tea polyphenols after oral intake in humans we performed a population nutrikinetic study of standardized green tea extract. 84 healthy participants took green tea extract capsules standardized to 150 mg epigallocatechin-gallate (EGCG) twice a day for 5 days. On day 5 catechin plasma concentrations were analyzed using non-compartmental and population pharmacokinetic methods...
2018: PloS One
https://www.readbyqxmd.com/read/29464093/impact-of-lmp7-rs2071543-gene-polymorphism-in-increasing-cancer-risk-evidence-from-a-meta-analysis-and-trial-sequential-analysis
#8
Raju K Mandal, Sajad A Dar, Arshad Jawed, Mohd Wahid, Mohtashim Lohani, Aditya K Panda, Bhartendu N Mishra, Naseem Akhter, Mohammed Y Areeshi, Shafiul Haque
Genetic variant LMP7 (low molecular weight polypeptide 7) -145 C > A may influence the function of immune surveillance of an individual and lead to cancer development. Various studies have investigated the relevance of LMP7 -145 C > A gene polymorphism with cancer risk; but, their results are conflicting and inconsistent. To obtain a comprehensive conclusion, a meta-analysis was performed by including eight eligible published studies retrieved from PubMed (Medline), EMBASE and Google Scholar web search until December 2016...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29464080/effects-of-interactions-between-common-genetic-variants-and-alcohol-consumption-on-colorectal-cancer-risk
#9
Nan Song, Aesun Shin, Jae Hwan Oh, Jeongseon Kim
Background: Genome-wide association studies (GWAS) have identified approximately 40 common genetic loci associated with colorectal cancer risk. To investigate possible gene-environment interactions (GEIs) between GWAS-identified single-nucleotide polymorphisms (SNPs) and alcohol consumption with respect to colorectal cancer, a hospital-based case-control study was conducted. Results: Higher levels of alcohol consumption as calculated based on a standardized definition of a drink (1 drink=12...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29464044/the-transcriptional-and-mutational-landscapes-of-lipid-metabolism-related-genes-in-colon-cancer
#10
Lara P Fernández, Ricardo Ramos-Ruiz, Jesús Herranz, Roberto Martín-Hernández, Teodoro Vargas, Marta Mendiola, Laura Guerra, Guillermo Reglero, Jaime Feliu, Ana Ramírez de Molina
Metabolic alterations encountered in tumors are well recognized and considered as a hallmark of cancer. In addition to Warburg Effect, epidemiological and experimental studies support the crucial role of lipid metabolism in colorectal cancer (CRC). The overexpression of four lipid metabolism-related genes ( ABCA1, ACSL1, AGPAT1 and SCD genes) has been proposed as prognostic marker of stage II CRC (ColoLipidGene signature). In order to explore in depth the transcriptomic and genomic scenarios of ABCA1 , ACSL1 , AGPAT1 and SCD genes, we performed a transcriptomic meta-analysis in more than one thousand CRC individuals...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29462916/gene-environment-interactions-and-predictors-of-colorectal-cancer-in-family-based-multi-ethnic-groups
#11
S Pamela K Shiao, James Grayson, Chong Ho Yu, Brandi Wasek, Teodoro Bottiglieri
For the personalization of polygenic/omics-based health care, the purpose of this study was to examine the gene-environment interactions and predictors of colorectal cancer (CRC) by including five key genes in the one-carbon metabolism pathways. In this proof-of-concept study, we included a total of 54 families and 108 participants, 54 CRC cases and 54 matched family friends representing four major racial ethnic groups in southern California (White, Asian, Hispanics, and Black). We used three phases of data analytics, including exploratory, family-based analyses adjusting for the dependence within the family for sharing genetic heritage, the ensemble method, and generalized regression models for predictive modeling with a machine learning validation procedure to validate the results for enhanced prediction and reproducibility...
February 16, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29461598/association-on-polymorphisms-in-lncrna-hotair-and-susceptibility-to-hnscc-in-chinese-population
#12
B Wu, J Liu, B Wang, X Liao, Z Cui, N Ding
OBJECTIVE: More and more evidence has shown that the critical functions of long non-coding RNA (lncRNA) polymorphism in the carcinogenicity mechanism of a variety of cancers. The association between lncRNA HOX transcript antisense intergenic RNA (HOTAIR) polymorphism and the risk of head and neck squamous cell carcinoma (HNSCC) in Chinese population has not been reported. To investigated the effects of HOTAIR polymorphism on cancer susceptibility, the influence of HOTAIR variants on the risk of HNSCC was analyzed in this study...
February 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29459177/il-10-correlates-with-the-expression-of-carboxypeptidase-b2-and-lymphovascular-invasion-in-inflammatory-breast-cancer-the-potential-role-of-tumor-infiltrated-macrophages
#13
Hossam Taha Mohamed, Noura El-Husseiny, Eslam A El-Ghonaimy, Sherif Abdelaziz Ibrahim, Zainab A Bazzi, Dora Cavallo-Medved, Michael B Boffa, Mohamed El-Shinawi, Mona Mostafa Mohamed
Pro-carboxypeptidase B2 (pro-CPB2) or thrombin-activatable fibrinolysis inhibitor (TAFI) is a glycoprotein encoded by the CPB2 gene and deregulated in several cancer types, including breast cancer. Thrombin binding to thrombomodulin (TM), encoded by THBD, is important for TAFI activation. CPB2 gene expression is influenced by genetic polymorphism and cytokines such as interleukin 10 (IL-10). Our previous results showed that tumor infiltrating monocytes/macrophages (CD14+ /CD16+ ) isolated from inflammatory breast cancer (IBC) patients' secrete high levels of IL-10...
January 10, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29458367/the-rs1024611-in-the-ccl2-gene-and-risk-of-gynecological-cancer-in-asians-a-meta-analysis
#14
Shuying He, Xiuzhen Zhang
BACKGROUND: The -2518A/G (rs1024611) polymorphism of the CCL2 (C-C motif chemokine ligand 2), also known as MCP-1 (monocyte chemotactic protein-1) gene, has been reported to be associated with increased gynecological cancer risk, but the results are conflicting. METHODS: In this analysis, 1089 cases and 1553 controls from six publications were used to investigate the association between CCL2-2518A/G (rs1024611) polymorphism and the risk of gynecological cancer with a meta-analytic approach...
February 20, 2018: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29455641/circadian-pathway-genetic-variation-and-cancer-risk-evidence-from-genome-wide-association-studies
#15
Simone Mocellin, Saveria Tropea, Clara Benna, Carlo Riccardo Rossi
BACKGROUND: Dysfunction of the circadian clock and single polymorphisms of some circadian genes have been linked to cancer susceptibility, although data are scarce and findings inconsistent. We aimed to investigate the association between circadian pathway genetic variation and risk of developing common cancers based on the findings of genome-wide association studies (GWASs). METHODS: Single nucleotide polymorphisms (SNPs) of 17 circadian genes reported by three GWAS meta-analyses dedicated to breast (Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Consortium; cases, n = 15,748; controls, n = 18,084), prostate (Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium; cases, n = 14,160; controls, n = 12,724) and lung carcinoma (Transdisciplinary Research In Cancer of the Lung (TRICL) Consortium; cases, n = 12,160; controls, n = 16,838) in patients of European ancestry were utilized to perform pathway analysis by means of the adaptive rank truncated product (ARTP) method...
February 19, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29454863/potentially-functional-variants-of-atg16l2-predict-radiation-pneumonitis-and-outcomes-in-patients-with-non-small-cell-lung-cancer-after-definitive-radiotherapy
#16
Juyi Wen, Hongliang Liu, Lili Wang, Xiaomeng Wang, Ning Gu, Zhensheng Liu, Ting Xu, Daniel R Gomez, Ritsuko Komaki, Zhongxing Liao, Qingyi Wei
INTRODUCTION: Autophagy not only plays an important role in the progression of cancer but also is involved in tissue inflammatory response. However, few published studies have investigated associations between functional genetic variants of autophagy-related genes and radiation pneumonitis (RP) as well as clinical outcomes in patients with non-small cell lung cancer (NSCLC) after definitive radiotherapy. METHODS: We genotyped nine potentially functional single nucleotide polymorphisms (SNPs) in four autophagy-related genes (ATG2B, ATG10, ATG12 and ATG16L2) in 393 North American NSCLC patients treated by definitive radiotherapy and assessed their associations with RP, local recurrence-free survival (LRFS), progression-free survival (PFS) and overall survival (OS) in multivariable Cox proportional hazards regression analyses...
February 15, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29453645/emphasis-of-fas-fasl-gene-polymorphism-in-patients-with-non-muscle-invasive-bladder-cancer
#17
Cavit Ceylan, Sedat Yahşi, Serkan Doğan, Elife ÖztÜrk, Gulay Ceylan
BACKGROUND: Bladder cancer (BCa) is the seventh most common cancer among males worldwide. Some reliable markers in blood, urine, and tumor tissue, including clinicopathologic variables, molecular and inflammatory markers, gene polymorphisms, and tumor gene expression profiles are identified for predicting response to BCG immunotherapy in high-risk BCa patients. AIMS: We aimed to determine if FAS and FASL polymorphisms are associated with lack of response to BCG in patients with BCa...
February 16, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29452234/exploring-the-deleterious-snps-in-xrcc4-gene-using-computational-approach-and-studying-their-association-with-breast-cancer-in-the-population-of-west-india
#18
Preety Kadian Singh, Kinnari Mistry, C Haritha, D N Rank, Chaitanya Joshi
Non-homologous end joining (NHEJ) pathway has pivotal role in repair of double-strand DNA breaks that may lead to carcinogenesis. XRCC4 is one of the essential proteins of this pathway and single-nucleotide polymorphisms (SNPs) of this gene are reported to be associated with cancer risks. In our study, we first used computational approaches to predict the damaging variants of XRCC4 gene. Tools predicted rs79561451 (S110P) nsSNP as the most deleterious SNP. Along with this SNP, we analysed other two SNPs (rs3734091 and rs6869366) to study their association with breast cancer in population of West India...
February 13, 2018: Gene
https://www.readbyqxmd.com/read/29450776/modulatory-role-of-gstt1-and-gstm1-in-punjabi-agricultural-workers-exposed-to-pesticides
#19
Meenakshi Ahluwalia, Anupam Kaur
Glutathione S-transferases are important detoxification enzymes involved in the metabolism of endogenous as well as exogenous compounds. Individuals differ in metabolic capacity due to inherited genetic variations. Due to the polymorphism exhibited by GSTT1 and GSTM1 that results in the complete loss of function, the present study was aimed towards the determination of the frequency distribution of GSTT1 and GSTM1 in agricultural workers in Punjab, India. The study aimed to investigate their contribution in susceptibility to increased disease risk...
February 15, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29450669/association-of-tert-clptm1l-and-8q24-common-genetic-variants-with-gallbladder-cancer-susceptibility-and-prognosis-in-north-indian-population
#20
Saurabh Yadav, Abhijit Chandra, Ashok Kumar, Balraj Mittal
Gallbladder carcinoma (GBC) is one of the common malignancy of the biliary tract. Several genome wide and candidate gene studies have reported associations between multiple cancer types and single-nucleotide polymorphisms on 5p15.33 and 8q24.21 loci. However, predisposition potential of these genetic variants has not been assessed in GBC. We performed the present study to assess the potential of five polymorphisms on 5p15.33 and one on 8q24.21 locus in GBC risk and treatment response in patients undergoing chemoradiotherapy...
February 15, 2018: Biochemical Genetics
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