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https://www.readbyqxmd.com/read/28101800/is-the-genetic-background-of-co-stimulatory-cd28-ctla-4-pathway-the-risk-factor-for-prostate-cancer
#1
Lidia Karabon, K Tupikowski, A Tomkiewicz, A Partyka, E Pawlak-Adamska, A Wojciechowski, A Kolodziej, J Dembowski, R Zdrojowy, I Frydecka
The impairment of immunological surveillance caused by aberrant T cell activation can lead to an inadequate anti-tumor response. Therefore, deregulation in co-stimulatory pathway might be associated with cancer susceptibility. Here we undertook a prospective study to investigate whether genetic variations in gene encoding molecule CD28 and CTLA-4 playing pivotal role in regulating adoptive immune response can influence susceptibility to prostate cancer. Single nucleotide polymorphisms (SNPs) in CTLA-4 and CD28 genes were genotyped in 301 prostate cancer (PCa) patients and 301 controls...
January 18, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28097051/ctla-4-polymorphisms-associate-with-breast-cancer-susceptibility-in-asians-a-meta-analysis
#2
Zhiming Dai, Tian Tian, Meng Wang, Xinghan Liu, Shuai Lin, Pengtao Yang, Kang Liu, Yi Zheng, Peng Xu, Meng Liu, Xuewen Yang, Zhijun Dai
Previous studies have investigated the association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphisms and breast cancer susceptibility, but the results remained inconsistent. Therefore, we evaluated the relationship between four common CTLA-4 polymorphisms and breast cancer risk by a meta-analysis, aiming to derive a comprehensive and precise conclusion. We searched EMBASE, Pubmed, Web of Science, CNKI, and Wanfang databases until July 18th, 2016. Finally, ten eligible studies involving 4,544 breast cancer patients and 4,515 cancer-free controls were included; all these studies were from Asia...
2017: PeerJ
https://www.readbyqxmd.com/read/28096648/identification-of-genetic-and-epigenetic-variants-associated-with-breast-cancer-prognosis-by-integrative-bioinformatics-analysis
#3
Arunima Shilpi, Yingtao Bi, Segun Jung, Samir K Patra, Ramana V Davuluri
INTRODUCTION: Breast cancer being a multifaceted disease constitutes a wide spectrum of histological and molecular variability in tumors. However, the task for the identification of these variances is complicated by the interplay between inherited genetic and epigenetic aberrations. Therefore, this study provides an extrapolate outlook to the sinister partnership between DNA methylation and single-nucleotide polymorphisms (SNPs) in relevance to the identification of prognostic markers in breast cancer...
2017: Cancer Informatics
https://www.readbyqxmd.com/read/28095066/association-of-osteopontin-gene-polymorphisms-with-colorectal-cancer
#4
Asmaa Kamal, Rania Kamal Darwish, Samar Saad, Mohamed Salama, Tarek S El-Baradie, Heba G M Mahmoud, Yasmine Elshiwy
We investigated the association of the Osteopontin (OPN) (rs9138 and rs1126616) polymorphisms with colorectal cancer (CRC). One hundred CRC patients and 112 healthy individuals were subjected to OPN (rs9138 and rs1126616) genotyping and measurement of OPN protein plasma level. The C allele of OPN rs1126616 and the CC haplotype were significantly higher in CRC patient (p = 0.036, 0.003, respectively). In females, the C allele of OPN rs9318 (A/C) polymorphism was significantly associated with increased CRC risk (p = 0...
January 17, 2017: Cancer Investigation
https://www.readbyqxmd.com/read/28093106/genetic-and-epigenetic-aberrations-of-p16-in-feline-primary-neoplastic-diseases-and-tumor-cell-lines-of-lymphoid-and-non-lymphoid-origins
#5
H Mochizuki, A Fujiwara-Igarashi, M Sato, Y Goto-Koshino, K Ohno, H Tsujimoto
The p16 gene acts as a tumor suppressor by regulating the cell cycle and is frequently inactivated in human and canine cancers. The aim of this study was to characterize genetic and epigenetic alterations of the p16 in feline lymphoid and non-lymphoid malignancies, using 74 primary tumors and 11 tumor cell lines. Cloning of feline p16 and subsequent sequence analysis revealed 11 germline sequence polymorphisms in control cats. Bisulfite sequencing analysis of the p16 promoter region in a feline lymphoma cell line revealed that promoter methylation was associated with decreased mRNA expression...
January 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28093084/association-between-dna-mismatch-repair-gene-polymorphisms-and-platinum-based-chemotherapy-toxicity-in-non-small-cell-lung-cancer-patients
#6
Jun-Yan Liu, Chen-Yue Qian, Yuan-Feng Gao, Juan Chen, Hong-Hao Zhou, Ji-Ye Yin
BACKGROUND: Chemotherapy toxicity is a serious problem from which non-small cell lung cancer (NSCLC) patients suffer. The mismatch repair (MMR) system is associated with platinum-based chemotherapy toxicity in NSCLC patients. In this study, we aimed to investigate the relationship between genetic polymorphisms in the MMR pathway and platinum-based chemotherapy toxicity in NSCLC patients. METHODS: A total of 220 Chinese lung cancer patients who received at least two cycles of platinum-based chemotherapy were recruited for this study...
January 16, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28091563/androgen-receptor-gene-polymorphisms-and-risk-of-prostate-cancer-a-meta-analysis
#7
Hong Weng, Sheng Li, Jing-Yu Huang, Zi-Qi He, Xiang-Yu Meng, Yue Cao, Cheng Fang, Xian-Tao Zeng
Although the association between CAG and GGN repeats in the androgen receptor gene and prostate cancer risk has been widely studied, it remains controversial from previous meta-analyses and narrative reviews. Therefore, we performed this meta-analysis to provide more precise estimates with sufficient power. A total of 51 publications with 61 studies for CAG repeats and 14 publications with 16 studies for GGN repeats were identified in the meta-analysis. The results showed that short CAG repeats (<22 repeats) carriers presented an elevated risk of prostate cancer than long CAG repeats (≥22) carriers (OR = 1...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28089639/a-systematic-review-of-the-association-between-fatigue-and-genetic-polymorphisms
#8
REVIEW
Tengteng Wang, Jie Yin, Andrew H Miller, Canhua Xiao
Fatigue is one of the most common and distressing symptoms, leading to markedly decreased quality of life among a large subset of patients with a variety of disorders. Susceptibility to fatigue may be influenced by genetic factors including single nucleotide polymorphisms (SNPs), especially in the regulatory regions, of relevant genes. To further investigate the association of SNPs with fatigue in various patient populations, a systematic search was conducted on Pubmed, CINAHL, PsycINFO, and Sociological Abstracts Database for fatigue related-terms in combination with polymorphisms or genetic variation-related terms...
January 12, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28088355/kir-genes-and-hla-class-i-ligands-in-a-caucasian-brazilian-population-with-colorectal-cancer
#9
Pâmela Portela, Joice Merzoni, Juliana D Lindenau, Daniel C Damin, Timothy John Wilson, Rafael Roesler, Gilberto Schwartsmann, Luiz Mariana Fernando Jobim Jobim
Colorectal cancer (CRC) can occur anywhere in the colon or rectum and represents the third most common cancer in the world in both sexes. Natural killer cells (NK) are part of the innate immune system recognizing class I HLA molecules on target cells through their membrane receptors, called killer cell immunoglobulin-like receptors (KIR). The aim of our study was to evaluate the association between the KIR genes and HLA ligands in patients with colorectal cancer and healthy controls. We examined the polymorphism of 16 KIR genes and their HLA ligands in 154 caucasoid CRC patients and 216 controls...
January 11, 2017: Human Immunology
https://www.readbyqxmd.com/read/28081303/the-novel-fusion-transcript-nr5a2-klhl29ft-is-generated-by-an-insertion-at-the-klhl29-locus
#10
Zhenguo Sun, Xiquan Ke, Steven L Salzberg, Daehwan Kim, Valentin Antonescu, Yulan Cheng, Binbin Huang, Jee Hoon Song, John M Abraham, Sariat Ibrahim, Hui Tian, Stephen J Meltzer
BACKGROUND: Novel fusion transcripts (FTs) caused by chromosomal rearrangement are common factors in the development of cancers. In the current study, the authors used massively parallel RNA sequencing to identify new FTs in colon cancers. METHODS: RNA sequencing (RNA-Seq) and TopHat-Fusion were used to identify new FTs in colon cancers. The authors then investigated whether the novel FT nuclear receptor subfamily 5, group A, member 2 (NR5A2)-Kelch-like family member 29 FT (KLHL29FT) was transcribed from a genomic chromosomal rearrangement...
January 12, 2017: Cancer
https://www.readbyqxmd.com/read/28081275/role-of-xrcc1-gene-polymorphisms-in-non-small-cell-lung-cancer-cisplatin-based-chemotherapy-and-their-effect-on-clinical-and-pathological-characteristics
#11
H F Liu, J S Liu, J H Deng, R R Wu
Non-small cell lung cancer (NSCLC) is the most common cancer globally. The XRCC1 protein interacts with ligase and poly(ADP-ribose) polymerase to repair cisplatin-induced DNA damage. The authors of previous studies have reported XRCC1 Arg399Gln, Arg280His, and Arg194Trp polymorphisms and advanced NSCLC prognosis, but the results are inconclusive. We investigated the association between clinical outcome and XRCC1 Arg399Gln, Arg280His, and Arg194Trp polymorphisms in advanced NSCLC patients treated with cisplatin...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28081215/genome-wide-association-studies-of-multiple-keratinocyte-cancers
#12
Luba M Pardo, Wen-Qing Li, Shih-Jen Hwang, Joris A C Verkouteren, Albert Hofman, André G Uitterlinden, Peter Kraft, Constance Turman, Jiali Han, Eunyoung Cho, Joanne M Murabito, Daniel Levy, Abrar A Qureshi, Tamar Nijsten
There is strong evidence for a role of environmental risk factors involved in susceptibility to develop multiple keratinocyte cancers (mKCs), but whether genes are also involved in mKCs susceptibility has not been thoroughly investigated. We investigated whether single nucleotide polymorphisms (SNPs) are associated with susceptibility for mKCs. A genome-wide association study (GWAS) of 1,666 cases with mKCs and 1,950 cases with single KC (sKCs; controls) from Harvard cohorts (the Nurses' Health Study [NHS], NHS II, and the Health Professionals Follow-Up Study) and the Framingham Heart Study was carried-out using over 8 million SNPs (stage-1)...
2017: PloS One
https://www.readbyqxmd.com/read/28076835/the-functional-polymorphisms-of-lis1-are-associated-with-acute-myeloid-leukemia-risk-in-a-han-chinese-population
#13
Songyu Cao, Xiaomei Lu, Lihua Wang, Xifeng Qian, Guangfu Jin, Hongxia Ma
There is increasing evidence that the human lissencephaly-1 gene, LIS1, plays an important role in carcinogenesis of several malignancies including leukemia. However, little is known about the relationship between single nucleotide polymorphisms (SNPs) in LIS1 and the susceptibility to myeloid leukemia. In the present study, we systematically screened 5 potentially functional polymorphisms in LIS1, and conducted a case-control study including 660 acute myeloid leukemia (AML) patients and 1034 cancer-free controls in a Chinese population, to assess the association between these SNPs and AML risk...
January 2, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28074552/validation-of-microrna-pathway-polymorphisms-in-esophageal-adenocarcinoma-survival
#14
Olusola O Faluyi, Lawson Eng, Xin Qiu, Jiahua Che, Qihuang Zhang, Dangxiao Cheng, Nanjiao Ying, Alvina Tse, Qin Kuang, Lorin Dodbiba, Daniel J Renouf, Sharon Marsh, Sevtap Savas, Helen J Mackay, Jennifer J Knox, Gail E Darling, Rebecca K S Wong, Wei Xu, Abul Kalam Azad, Geoffrey Liu
Polymorphisms in miRNA and miRNA pathway genes have been previously associated with cancer risk and outcome, but have not been studied in esophageal adenocarcinoma outcomes. Here, we evaluate candidate miRNA pathway polymorphisms in esophageal adenocarcinoma prognosis and attempt to validate them in an independent cohort of esophageal adenocarcinoma patients. Among 231 esophageal adenocarcinoma patients of all stages/treatment plans, 38 candidate genetic polymorphisms (17 biogenesis, 9 miRNA targets, 5 pri-miRNA, 7 pre-miRNA) were genotyped and analyzed...
January 11, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28074308/influence-of-ts-and-abcb1%C3%A2-gene-polymorphisms-on-survival-outcomes-of-5%C3%A2-fu-based-chemotherapy-in-a%C3%A2-chinese-population-of-advanced-gastric-cancer-patients
#15
Jun Chen, Xueming Ying, Ling Zhang, Xiaojun Xiang, Jianping Xiong
To investigate the impacts of gene variations on survival outcomes of advanced gastric cancer (AGC) patients treated with 5‑fluorouracil (5-FU)-based chemotherapy, we analyzed the associations of 2 indels of the TS gene rs34743033 (double or triple tandem repeats of a 28 bp sequence in 5'-UTR, denoted as 2R or 3R allele) and rs16430 (a 6 bp variation at 1494 bp in 3'-UTR, denoted as ins6 or del6 allele) and 2 single nucleotide polymorphisms (SNPs) of ABCB1gene rs2032582 in exon 21 and rs1045642 in exon 26, with clinical outcomes after 5‑FU treatment...
January 10, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28074113/genetic-polymorphisms-of-human-cytochrome-p450-cyp1a1-in-an-egyptian-population-and-tobacco-induced-lung-cancer
#16
Nada Ezzeldin, Dalia El-Lebedy, Amira Darwish, Ahmed El-Bastawisy, Mirhane Hassan, Shereen Abd El-Aziz, Mohamed Abdel-Hamid, Amal Saad-Hussein
BACKGROUND: Cytochrome P450 CYP1A1 helps detoxify the potential carcinogens in tobacco smoke, it was reported that polymorphisms in the coding gene result in variation in the expression and activity levels which alter metabolism and clearance of carcinogens and therefore modify cancer risk. In this work, we aimed to identify CYP1A1 gene polymorphisms associated with lung cancer in Egyptian population and to examine the interaction effect with Tobacco smoking in modulating disease risk...
2017: Genes and Environment: the Official Journal of the Japanese Environmental Mutagen Society
https://www.readbyqxmd.com/read/28073672/the-long-story-of-camptothecin-from-traditional-medicine-to-drugs
#17
REVIEW
Emanuela Martino, Serena Della Volpe, Elisa Terribile, Emanuele Benetti, Mirena Sakaj, Adriana Centamore, Andrea Sala, Simona Collina
20-(S)-Camptothecin (CPT) is a natural alkaloid extracted from the bark of Camptotheca acuminata (Chinese happy tree). It acts as a DNA topoisomerase 1 poison with an interesting antitumor activity and its use is limited by low stability and solubility and unpredictable drug-drug interactions. Since the late 20th century, it has been widely used in cancer therapy and, since extraction yields from plant tissues are very low, various synthetic routes have been developed to satisfy the increase in demand for CPT...
December 31, 2016: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28073161/the-pnpla3-i148m-variant-modulates-the-fibrogenic-phenotype-of-human-hepatic-stellate-cells
#18
Francesca Virginia Bruschi, Thierry Claudel, Matteo Tardelli, Alessandra Caligiuri, Thomas M Stulnig, Fabio Marra, Michael Trauner
: The genetic polymorphism I148M of PNPLA3 is robustly associated with hepatic steatosis and its progression to steatohepatitis, fibrosis and cancer. Hepatic stellate cells (HSCs) are key players in the development of liver fibrosis, but the role of PNPLA3 and its variant I148M in this process is poorly understood. Here we analyzed the expression of PNPLA3 during human HSC activation and thereby explored how a PNPLA3 variant impacts on hepatic fibrogenesis. We show that PNPLA3 gene and protein expression increase during the early phases of activation and remain elevated in fully activated HSCs (p<0...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28071611/microsomal-epoxide-hydrolase-gene-polymorphisms-and-susceptibility-to-prostate-cancer-a-systematic-review
#19
REVIEW
Dsl Srivastava
Microsomal epoxide hydrolase (mEH) is a crucial biotransformation enzyme that has capability to metabolize a large number of structurally divergent, highly reactive epoxides, and numerous environmentally exposed carcinogens. It catalyzes the conversion of xenobiotic epoxide compounds into more polar diol metabolites and may play important part of the enzymatic defense against adverse effects of foreign compounds. Most commonly, two functional polymorphisms affecting mEH enzyme activity have been identified: One in exon 3 and other in exon 4 of the mEH gene, which results in His113Tyr and Arg139His amino acid substitutions, respectively...
April 2016: Indian Journal of Cancer
https://www.readbyqxmd.com/read/28070798/does-vitamin-d-play-a-role-in-autoimmune-endocrine-disorders-a-proof-of-concept
#20
REVIEW
Barbara Altieri, Giovanna Muscogiuri, Luigi Barrea, Chantal Mathieu, Carla V Vallone, Luca Mascitelli, Giorgia Bizzaro, Vincenzo M Altieri, Giacomo Tirabassi, Giancarlo Balercia, Silvia Savastano, Nicola Bizzaro, Cristina L Ronchi, Annamaria Colao, Alfredo Pontecorvi, Silvia Della Casa
In the last few years, more attention has been given to the "non-calcemic" effect of vitamin D. Several observational studies and meta-analyses demonstrated an association between circulating levels of vitamin D and outcome of many common diseases, including endocrine diseases, chronic diseases, cancer progression, and autoimmune diseases. In particular, cells of the immune system (B cells, T cells, and antigen presenting cells), due to the expression of 1α-hydroxylase (CYP27B1), are able to synthesize the active metabolite of vitamin D, which shows immunomodulatory properties...
January 9, 2017: Reviews in Endocrine & Metabolic Disorders
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