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https://www.readbyqxmd.com/read/28731050/genomic-abnormalities-in-invasive-endocervical-adenocarcinoma-correlate-with-pattern-of-invasion-biologic-and-clinical-implications
#1
Anjelica Hodgson, Yutaka Amemiya, Arun Seth, Matthew Cesari, Bojana Djordjevic, Carlos Parra-Herran
The pattern-based classification system for HPV-related endocervical adenocarcinoma, which classifies tumors based on the destructiveness of stromal invasion, is predictive of the risk of nodal metastases and adverse outcome. Previous studies have demonstrated clinically important molecular alterations in endocervical adenocarcinoma, including KRAS and PIK3CA mutations; however, correlation between the molecular landscape and pathological variables including pattern of invasion has not been thoroughly explored...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28730780/vascular-endothelial-growth-factor-gene-polymorphisms-and-gastric-cancer-risk-a-meta-analysis
#2
Meng Zhuang, Zhi Peng, Jian Wang, Xiangqian Su
PURPOSE: Vascular endothelial growth factor (VEGF) plays important roles in the process of tumor growth and metastasis. Although the association between VEGF polymorphisms and gastric cancer risk has been extensively studied, available results remain controversial. To derive a convincing estimation of the relationship, a meta-analysis containing 6 VEGF (+936C/T, -634G/C, -460T/C, +1612G/A, -2578C/A and -1154G/A) gene polymorphisms was performed. METHODS: We conducted a systematic search of PubMed and Chinese National Knowledge Infrastructure (CNKI) to select relevant articles...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28730229/molecular-analysis-of-brca1-and-brca2-genes-by-next-generation-sequencing-and-ultrastructural-aspects-of-breast-tumor-tissue
#3
Corina Elena Mihalcea, Ana Maria Moroşanu, Daniela Murăraşu, Liliana Puiu, Sabin Aurel Cinca, Silviu Cristian Voinea, Nicolae Mirancea
In this paper, we focus our interest on the dynamics alterations of the tumor-stroma interface at the ultrastructural level and to detect BRCA1 and BRCA2 mutations using next generation sequencing (NGS) of breast tumor tissue. Electron microscopic investigation revealed some peculiar infrastructural alterations of the tumor cells per se as well as of the tumor-stroma interface: invadopodia, shedding microvesicles, altered morphology and reduced number of telocytes, different abnormalities of the microvasculature...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28727815/polymorphisms-associated-with-everolimus-pharmacokinetics-toxicity-and-survival-in-metastatic-breast-cancer
#4
Tomas Pascual, María Apellániz-Ruiz, Cristina Pernaut, Cecilia Cueto-Felgueroso, Pablo Villalba, Carlos Álvarez, Luis Manso, Lucia Inglada-Pérez, Mercedes Robledo, Cristina Rodríguez-Antona, Eva Ciruelos
PURPOSE: Metastatic breast cancer (MBC) progressing after endocrine therapy frequently activates PI3K/AKT/mTOR pathway. The BOLERO-2 trial showed that everolimus-exemestane achieves increased progression free survival (PFS) compared with exemestane. However, there is great inter-patient variability in toxicity and response to exemestane-everolimus treatment. The objective of this study was to perform an exploratory study analyzing the implication of single nucleotide polymorphisms (SNPs) on outcomes from this treatment through a pharmacogenetic analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28727656/potential-association-of-il1b-polymorphism-with-iron-deficiency-risk-in-childhood-helicobacter-pylori-infection
#5
Szu-Ta Chen, Yen-Hsuan Ni, Shing-Hwa Liu
OBJECTIVE: Helicobacter pylori (H. pylori) infection occurs predominantly in childhood. Host immune response gene polymorphism is reported to affect the susceptibility to H. pylori infection and the outcome of H. pylori-related gastric cancer. However, not all H. pylori-infected patients exhibit iron deficiency. The relationship between host genetic polymorphisms and iron deficiency mediated by H. pylori infection is not well understood. METHODS: Subjects (n = 644) from the general population aged 10 to 18 years were divided into two groups based on serology testing for anti-H...
July 19, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28725034/common-shared-genetic-variation-behind-decreased-risk-of-breast-cancer-in-celiac-disease
#6
Emilio Ugalde-Morales, Jingmei Li, Keith Humphreys, Jonas F Ludvigsson, Haomin Yang, Per Hall, Kamila Czene
There is epidemiologic evidence showing that women with celiac disease have reduced risk of later developing breast cancer, however, the etiology of this association is unclear. Here, we assess the extent of genetic overlap between the two diseases. Through analyses of summary statistics on densely genotyped immunogenic regions, we show a significant genetic correlation (r = -0.17, s.e. 0.05, P < 0.001) and overlap (P permuted < 0.001) between celiac disease and breast cancer. Using individual-level genotype data from a Swedish cohort, we find higher genetic susceptibility to celiac disease summarized by polygenic risk scores to be associated with lower breast cancer risk (ORper-SD, 0...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724269/association-of-human-methionine-synthase-a2756g-transition-with-prostate-cancer-a-case-control-study-and-in-silico-analysis
#7
Arezou Ebrahimi, Abasalt Hosseinzadeh Colagar, Mohammad Karimian
Methionine synthase (MTR) is one of the key enzymes of folate pathway, which play a key role in the construction, repair, and methylation of DNA. In this study, an association of MTR A2756G gene transition with prostate cancer in men populations of Kashan-Iran was investigated by a case-control study and an in silico analysis. The 200 samples including 100 patients with prostate cancer, as case group and 100 healthy men, as control group included in this study. MTR-A2756G genotyping was performed by PCR-RFLP technique...
May 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28723753/tumor-necrosis-factor-alpha-238g-a-polymorphism-and-risk-of-breast-cancer-an-update-by-meta-analysis
#8
Qing Zhang, Guang Sheng Zhao, Xiao Lin Yuan, Xiao Huan Li, Zhen Yang, Yi Fen Cui, Qing Lin Guan, Xiu Yan Sun, Wan Shen, Tai An Xu, Qiu Shi Wang
BACKGROUND: The association between the tumor necrosis factor-alpha gene (TNF-a) -238G/A polymorphism and the breast cancer has been analyzed in several studies, but the results have been inconclusive. We then performed a meta-analysis to get a precise estimation of the association. METHODS: Eight case-control studies with a total of 37,257 cases and 39,564 controls were identified by searching the ISI Web of Knowledge database and the PubMed database up to August 2014...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723664/detecting-the-genetic-link-between-alzheimer-s-disease-and-obesity-using-bioinformatics-analysis-of-gwas-data
#9
Qi-Shuai Zhuang, Hao Zheng, Xiao-Dan Gu, Liang Shen, Hong-Fang Ji
Alzheimer's disease (AD) represents the major form of dementia in the elderly. In recent years, accumulating evidence indicate that obesity may act as a risk factor for AD, while the genetic link between the two conditions remains unclear. This bioinformatics analysis aimed to detect the genetic link between AD and obesity on single nucleotide polymorphisms (SNPs), gene, and pathway levels based on genome-wide association studies data. A total of 31 SNPs were found to be shared by AD and obesity, which were linked to 7 genes...
July 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28723469/inflammation-microbiota-and-prostate-cancer
#10
REVIEW
Martin Puhr, Angelo De Marzo, William Isaacs, Marshall Scott Lucia, Karen Sfanos, Srinivasan Yegnasubramanian, Zoran Culig
CONTEXT: Chronic inflammation of the prostate has been associated with preneoplastic lesions and cancer development. Multiple causes have been considered for chronic inflammation of the prostate. Inflammatory cytokines such as interleukins are implicated in prostate carcinogenesis and development. OBJECTIVE: To evaluate literature published on etiological factors, urinary microbiota, morphological features of proliferative inflammatory atrophy and high-grade prostate intraepithelial neoplasia, genetic polymorphisms, inflammatory stress, and cytokine signaling...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28719349/identification-of-g2607a-mutation-in-egfr-gene-with-a-significative-rate-in-moroccan-patients-with-bladder-cancer
#11
W El Hamdani, K Hadami, M Bensaid, H El Ahanidi, A Ameur, A Filali Maltouf, M Abbar, M Attaleb, A Albouzidi, M El Mzibri
The epidermal growth factor receptor (EGFR) is involved in the regulation of several cellular processes and in the development of many human cancers. Somatic mutations of EGFR at tyrosine kinase domain have been associated with clinical response to tyrosine kinase inhibitors (TKIs) in lung cancer patients. In this study, we evaluated the frequency of point mutations in EGFR for future use of TKI in clinical treatment of bladder cancer. A total, 50 Moroccan patient specimens with bladder cancer and 48 healthy controls were analysed for EGFR mutations in the region delimiting exons 18-21 by PCR amplification and direct sequencing...
May 20, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28718431/racial-differences-in-cancer-susceptibility-and-survival-more-than-the-color-of-the-skin
#12
REVIEW
Berna C Özdemir, Gian-Paolo Dotto
Epidemiological studies point to race as a determining factor in cancer susceptibility. In US registries recording cancer incidence and survival by race (distinguishing 'black versus white'), individuals of African ancestry have a globally increased risk of malignancies compared with Caucasians and Asian Americans. Differences in socioeconomic status and health-care access play a key role. However, the lesser disease susceptibility of Hispanic populations with comparable lifestyles and socioeconomic status as African Americans (Hispanic paradox) points to the concomitant importance of genetic determinants...
March 2017: Trends in Cancer
https://www.readbyqxmd.com/read/28718371/changes-in-the-expression-of-genes-involved-in-cell-cycle-regulation-and-the-relative-telomere-length-in-the-process-of-canceration-induced-by-omethoate
#13
Xiaoran Duan, Yongli Yang, Sihua Wang, Xiaolei Feng, Tuanwei Wang, Pengpeng Wang, Suxiang Liu, Lei Li, Wu Yao, Liuxin Cui, Wei Wang
Organophosphorous pesticides (OPs), with high efficiency, broad-spectrum and low residue, are widely used in China. Omethoate is a broad category of organophosphorous pesticides and is more domestically utilized which has chronic toxic effect on human health caused by long-term, low-dose exposure to Ops, recently its potential genotoxicity has attracted wide attention which can cause chromosomal DNA damage. Thus, the aim of this study is screen susceptible biomarkers and explore the mechanism of canceration induced by omethoate...
July 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28717669/pitfalls-in-genetic-testing-a-case-of-a-snp-in-primer-annealing-region-leading-to-allele-dropout-in-brca1
#14
Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, Raquel Stabellini, Dirce Maria Carraro
BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR-based screening techniques, such as capillary sequencing and next-generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Single-nucleotide polymorphisms (SNPs) constitute a vast source of variation in the human genome and represent a risk for misdiagnosis in genetic testing, since the presence of a SNP in primer-annealing sites may cause false negative results due to allele dropout...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717179/genetic-polymorphisms-and-platinum-based-chemotherapy-treatment-outcomes-in-patients-with-non-small-cell-lung-cancer-a-genetic-epidemiology-study-based-meta-analysis
#15
Li-Ming Tan, Cheng-Feng Qiu, Tao Zhu, Yuan-Xiang Jin, Xi Li, Ji-Ye Yin, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Data regarding genetic polymorphisms and platinum-based chemotherapy (PBC) treatment outcomes in patients with NSCLC are published at a growing pace, but the results are inconsistent. This meta-analysis integrated eligible candidate genes to better evaluate the pharmacogenetics of PBC in NSCLC patients. Relevant studies were retrieved from PubMed, Chinese National Knowledge Infrastructure and WANFANG databases. A total of 111 articles comprising 18,196 subjects were included for this study. The associations of genetic polymorphisms with treatment outcomes of PBC including overall response rate (ORR), overall survival (OS) and progression-free survival (PFS) were determined by analyzing the relative risk (RR), hazard ration (HR), corresponding 95% confidence interval (CI)...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715540/predictors-of-hand-foot-syndrome-and-pyridoxine-for-prevention-of-capecitabine-induced-hand-foot-syndrome-a-randomized-clinical-trial
#16
Yoon-Sim Yap, Li-Lian Kwok, Nicholas Syn, Wen Yee Chay, John Whay Kuang Chia, Chee Kian Tham, Nan Soon Wong, Soo Kien Lo, Rebecca Alexandra Dent, Sili Tan, Zuan Yu Mok, King Xin Koh, Han Chong Toh, Wen Hsin Koo, Marie Loh, Raymond Chee Hui Ng, Su Pin Choo, Richie Chuan Teck Soong
Importance: Hand-foot syndrome (HFS) is a common adverse effect of capecitabine treatment. Objective: To compare the incidence and time to onset of grade 2 or greater HFS in patients receiving pyridoxine vs placebo and to identify biomarkers predictive of HFS. Design, Setting, and Participants: This single-center, randomized double-blind, placebo-controlled phase 3 trial conducted at National Cancer Centre Singapore assessed whether oral pyridoxine could prevent the onset of grade 2 or higher HFS in 210 patients scheduled to receive single-agent capecitabine chemotherapy for breast, colorectal, and other cancers...
July 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28715484/multiple-renal-cancer-susceptibility-polymorphisms-modulate-the-hif-pathway
#17
Steffen Grampp, Virginia Schmid, Rafik Salama, Victoria Lauer, Franziska Kranz, James L Platt, James Smythies, Hani Choudhry, Margarete Goppelt-Struebe, Peter J Ratcliffe, David R Mole, Johannes Schödel
Un-physiological activation of hypoxia inducible factor (HIF) is an early event in most renal cell cancers (RCC) following inactivation of the von Hippel-Lindau tumor suppressor. Despite intense study, how this impinges on cancer development is incompletely understood. To test for the impact of genetic signals on this pathway, we aligned human RCC-susceptibility polymorphisms with genome-wide assays of HIF-binding and observed highly significant overlap. Allele-specific assays of HIF binding, chromatin conformation and gene expression together with eQTL analyses in human tumors were applied to mechanistic analysis of one such overlapping site at chromosome 12p12...
July 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28714190/polymorphisms-of-xenobiotic-metabolizing-genes-and-colorectal-cancer-risk-in-patients-with-lynch-syndrome-a-retrospective-cohort-study-in-taiwan
#18
Abram Bunya Kamiza, Jeng-Fu You, Wen-Chang Wang, Reiping Tang, Chun-Yu Chang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Chao A Hsiung, Chih-Ching Yeh
Cytochrome P450 (CYP), glutathione-S-transferase (GST), and N-acetyltransferase (NAT) are crucial for metabolism and clearance of xenobiotics. This study investigated whether CYP, GST, and NAT single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in patients with Lynch syndrome. The interaction between these SNPs and cigarette smoking or meat consumption was also explored. We identified 270 patients with Lynch syndrome from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium...
July 17, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28713071/association-of-il-2-330t-g-and-il-10-1082a-g-genetic-polymorphisms-with-b-nhl-in-a-cohort-of-egyptians
#19
Hala Aly Abdel Rahman, Mervat Mamdooh Khorshied, Ola Mohamed Reda Khorshid, Heba Mahmoud Mourad
OBJECTIVE: Polymorphisms in IL-2 and IL-10 genes have been known to be associated with increased risk of different immune-dysregulated disorders and cancer as Non Hodgkin Lymphoma (NHL). The aim of the current study was to investigate the possible association between IL-2-330T/G and IL-10-1082A/G genetic variations and B-cell NHL in a cohort of Egyptians. MATERIALS AND METHODS: Genotyping of the candidate genetic variations was performed by polymerase chain reaction (PCR) technique for 100 adult B-NHL patients and 100 age and sex matched healthy blood donors as controls...
July 17, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28712100/the-role-of-genomic-techniques-in-predicting-response-to-radiation-therapy
#20
REVIEW
Noelle L Williams, Tu Dan, Nicholas G Zaorsky, Shivank Garg, Robert B Den
The understanding of the relationship between genetic variation and an individual patient's response to radiation therapy (RT) has gained significant ground over the past several years. Genetic markers have been identified that could ultimately serve as the foundation for predictive models in clinical practice, and that hold the potential to revolutionize the delivery of precision medicine in oncology. Single nucleotide polymorphisms, single genes, and/or gene signatures could ultimately serve as the basis for patient stratification in prospective clinical trials...
July 15, 2017: Oncology (Williston Park, NY)
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