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Cancer genetics

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https://www.readbyqxmd.com/read/28103613/tissue-based-next-generation-sequencing-application-in-a-universal-healthcare-system
#1
REVIEW
Seán O Hynes, Brendan Pang, Jacqueline A James, Perry Maxwell, Manuel Salto-Tellez
In the context of solid tumours, the evolution of cancer therapies to more targeted and nuanced approaches has led to the impetus for personalised medicine. The targets for these therapies are largely based on the driving genetic mutations of the tumours. To track these multiple driving mutations the use of next generation sequencing (NGS) coupled with a morphomolecular approach to tumours, has the potential to deliver on the promises of personalised medicine. A review of NGS and its application in a universal healthcare (UHC) setting is undertaken as the technology has a wide appeal and utility in diagnostic, clinical trial and research paradigms...
January 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28103575/piwil2-transfected-human-fibroblasts-are-cancer-stem-cell-like-and-genetically-unstable
#2
Deying Zhang, Xin Wu, Xing Liu, Chunhong Cai, Guangping Zeng, Jan Rohozinski, Yuanyuan Zhang, Guanghui Wei, Dawei He
Uncontrolled cell proliferation and inhibition of apoptosis are considered to be vital for cancer initiation, maintenance, infiltration, metastasis and recurrence after anti-cancer therapy. Here we report the generation of a novel cell line by reprogramming child foreskin fibroblast with the full length apoptosis inhibitor gene PIWIL2. The fibroblasts transfected with PIWIL2 expressed the stem cell markers OCT-4, NANOG, SOX-2, KLF-4 and C-MYC; endoderm marker AFP and GATA6; mesoderm markers ACTA2 and BRACHYURY; and ectoderm markers NESTIN and TUBB3...
January 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28103111/oxidative-stress-and-carcinogenesis-potential-of-phytochemicals-in-breast-cancer-therapy
#3
Gilead Ebiegberi Forcados, Dorcas Bolanle James, Abdullahi Balarabe Sallau, Aliyu Muhammad, Peace Mabeta
Breast cancer remains a burden in both developed and developing countries, with higher mortality in developing countries. Attempts to eradicate cancer have not been successful despite the progress made in the development of more novel chemotherapeutic drugs. Reactive-oxygen-species-mediated oxidative stress is known to play a role in breast cancer pathogenesis via genetic and epigenetic modifications, resulting in uncontrolled cell proliferation. Phytochemicals could provide leads for the development of alternative therapeutic agents due to their antioxidant activity, as well as their ability to induce apoptosis in cancer cells...
January 19, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28103012/a-bi-modal-cationic-and-water-soluble-calix-4-arene-conjugate-design-synthesis-characterization-and-transfection-of-rfp-encoded-plasmid-in-cancer-cells
#4
Kushal Samanta, Dnyanesh S Ranade, Aekta Upadhyay, Prasad Padmakar Kulkarni, Chebrolu Pulla Rao
A new bimodal fluorescent cationic calix[4]arene (L1) conjugate has been synthesized in multiple steps and well characterized by NMR and ESI-MS techniques. L1 has been investigated for its DNA binding ability by various spectroscopy techniques like, absorption, fluorescence and circular dichroism (CD). The formation of L1-DNA complex has been confirmed by the gel electrophoresis in presence of incremental concentration of L1. To visualize the packing of the plasmid (pBR322), detailed tapping mode AFM study has been performed, which revealed blob like structure of plasmid upon addition of the incremental amount of L1...
January 19, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28101941/key-messages-for-communicating-information-about-brca1-and-brca2-to-women-with-breast-or-ovarian-cancer-consensus-across-health-professionals-and-service-users
#5
Chris Jacobs, Gabriella Pichert, Jackie Harris, Kathy Tucker, Susan Michie
OBJECTIVES: Genetic testing of cancer predisposing genes will increasingly be needed in oncology clinics in order to target cancer treatment. This Delphi study aimed to identify areas of agreement and disagreement between genetics and oncology health professionals and service users about the key messages required by women with breast/ovarian cancer who undergo BRCA1/BRCA2 genetic testing and the optimal timing of communicating key messages. METHODS: Participants were 16 expert health professionals specialising in oncology/genetics and 16 service users with breast/ovarian cancer and a pathogenic BRCA1/BRCA2 variant...
January 18, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#6
Hong Truong, Sarah E Hegarty, Leonard G Gomella, William K Kelly, Edouard J Trabulsi, Costas D Lallas, Veda N Giri
Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001-2011, n = 105,754) and in our institutional cancer registry (2004-2013, n = 998)...
January 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#7
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28101800/is-the-genetic-background-of-co-stimulatory-cd28-ctla-4-pathway-the-risk-factor-for-prostate-cancer
#8
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/28101578/a-22q11-2-amplification-in-the-region-encoding-microrna-650-correlates-with-the-epithelial-to-mesenchymal-transition-in-breast-cancer-primary-cultures-of-mexican-patients
#9
M Lango-Chavarría, G K Chimal-Ramírez, M E Ruiz-Tachiquín, N A Espinoza-Sánchez, M C Suárez-Arriaga, E M Fuentes-Pananá
Breast cancer ranks first in incidence and mortality in working age women. Cancer initiation and progression relies on accumulation of genetic and epigenetic aberrations that alter cellular processes, among them, epithelial to mesenchymal transition (EMT) denotes particularly aggressive neoplasias given its capacity to invade and metastasize. Several microRNAs (miRNA) have been found able to regulate gene expression at the core of EMT. In this study, the Affymetrix CytoScan HD array was used to analyze three different primary tumor cell isolates from Mexican breast cancer patients...
February 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28101205/impact-of-microsatellite-status-on-chemotherapy-for-colorectal-cancer-patients-with-kras-or-braf-mutation
#10
Chi-Jung Huang, Shih-Hung Huang, Chih-Cheng Chien, Henry Hsin-Chung Lee, Shung-Haur Yang, Chun-Chao Chang, Chia-Long Lee
KRAS and BRAF mutations are frequently detected in cases of colorectal cancer (CRC). The microsatellite status of patients with CRC and mutated KRAS/BRAF is important when determining cancer therapy. In the present study, the microsatellite status and genetic polymorphisms of KRAS (codons 12 and 13) and BRAF (V600E) were characterized in CRC tissue. The mismatch repair activity and oncogenic potential of KRAS were assessed by immunoblots from two KRAS-mutated CRC cell lines, SW480 and HCT116, with different microsatellite statuses, following treatment with 5-fluorouracil (5-FU) and oxaliplatin...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28100566/loss-of-axin1-drives-acquired-resistance-to-wnt-pathway-blockade-in-colorectal-cancer-cells-carrying-rspo3-fusions
#11
Gabriele Picco, Consalvo Petti, Alessia Centonze, Erica Torchiaro, Giovanni Crisafulli, Luca Novara, Andrea Acquaviva, Alberto Bardelli, Enzo Medico
In colorectal cancer (CRC), WNT pathway activation by genetic rearrangements of RSPO3 is emerging as a promising target. However, its low prevalence severely limits availability of preclinical models for in-depth characterization. Using a pipeline designed to suppress stroma-derived signal, we find that RSPO3 "outlier" expression in CRC samples highlights translocation and fusion transcript expression. Outlier search in 151 CRC cell lines identified VACO6 and SNU1411 cells as carriers of, respectively, a canonical PTPRK(e1)-RSPO3(e2) fusion and a novel PTPRK(e13)-RSPO3(e2) fusion...
January 18, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28100240/reactivation-of-dormant-anti-tumor-immunity-a-clinical-perspective-of-therapeutic-immune-checkpoint-modulation
#12
REVIEW
Richard Greil, Evelyn Hutterer, Tanja Nicole Hartmann, Lisa Pleyer
In favor of their outgrowth, cancer cells must resist immune surveillance and edit the immune response. Cancer immunoediting is characterized by fundamental changes in the cellular composition and the inflammatory cytokine profiles in the microenvironment of the primary tumor and metastatic niches, with an ever increasing complexity of interactions between tumor cells and the immune system. Recent data suggest that genetic instability and immunoediting are not necessarily disparate processes. Increasing mutational load may be associated with multiple neoepitopes expressed by the tumor cells and thus increased chances for the immune system to recognize and combat these cells...
January 19, 2017: Cell Communication and Signaling: CCS
https://www.readbyqxmd.com/read/28099992/on-estimation-of-time-dependent-attributable-fraction-from-population-based-case-control-studies
#13
Wei Zhao, Ying Qing Chen, Li Hsu
Population attributable fraction (PAF) is widely used to quantify the disease burden associated with a modifiable exposure in a population. It has been extended to a time-varying measure that provides additional information on when and how the exposure's impact varies over time for cohort studies. However, there is no estimation procedure for PAF using data that are collected from population-based case-control studies, which, because of time and cost efficiency, are commonly used for studying genetic and environmental risk factors of disease incidences...
January 18, 2017: Biometrics
https://www.readbyqxmd.com/read/28099948/mdm4-genetic-variants-and-risk-of-gastric-cancer-in-an-eastern-chinese-population
#14
Meng-Yun Wang, Ming Jia, Jing He, Fei Zhou, Li-Xin Qiu, Meng-Hong Sun, Ya-Jun Yang, Jiu-Cun Wang, Li Jin, Ya-Nong Wang, Qing-Yi Wei
MDM4 is a p53-interacting protein and plays an important role in carcinogenesis. In this study of 1,077 gastric cancer (GCa) cases and 1,173 matched cancer-free controls, we investigated associations between three tagging single nucleotide polymorphisms (SNPs) (rs11801299 G>A, rs1380576 C>G and rs10900598 G>T) in MDM4 and gastric cancer risk in an Eastern Chinese Population. In logistic regression analysis, a significantly decreased GCa risk was associated with the rs1380576 GG variant genotype (adjusted odds ratio [OR] =0...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099923/significant-association-between-let-7-kras-rs712-g-t-polymorphism-and-cancer-risk-in-the-chinese-population-a-meta-analysis
#15
Xin-Ya Du, Yuan-Yuan Hu, Chun Xie, Chun-Yan Deng, Cai-Yun Liu, Zhi-Guo Luo, Yu-Ming Niu, Ming Shen
Association between let-7-KRAS rs712 polymorphism and cancer risk was inconsistent. We therefore conducted this meta-analysis to clarify the association between let-7-KRAS rs712 polymorphism and cancer risk with STATA 14.0 software. A systemic literature search in online databases (PubMed, Embase, CNKI and Wanfang database) was preformed to obtain relevant articles. A total of 13 case-control studies involving 3,453 patients and 4,470 controls were identified up to May 16, 2015. The pooled results indicated that significantly increased risk were observed in Chinese population in T vs...
January 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099912/bone-marrow-micro-environment-is-a-crucial-player-for-myelomagenesis-and-disease-progression
#16
Patrizia Mondello, Salvatore Cuzzocrea, Michele Navarra, Michael Mian
Despite the advent of many therapeutic agents, such as bortezomib and lenalidomide that have significantly improved the overall survival, multiple myeloma remains an incurable disease. Failure to cure is multifactorial and can be attributed to the underlying genetic heterogeneity of the cancer and to the surrounding micro-environment. Understanding the mutual interaction between myeloma cells and micro-environment may lead to the development of novel treatment strategies able to eradicate this disease. In this review we discuss the principal molecules involved in the micro-environment network in multiple myeloma and the currently available therapies targeting them...
January 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099906/genomic-characteristics-of-pancreatic-squamous-cell-carcinoma-an-investigation-by-using-high-throughput-sequencing-after-in-solution-hybrid-capture
#17
Meng-Dan Xu, Shu-Ling Liu, Yi-Zhong Feng, Qiang Liu, Meng Shen, Qiaoming Zhi, Zeyi Liu, Dong-Mei Gu, Jie Yu, Liu-Mei Shou, Fei-Ran Gong, Qi Zhu, Weiming Duan, Kai Chen, Junning Zhang, Meng-Yao Wu, Min Tao, Wei Li
Squamous cell carcinoma (SCC) of pancreas is a rare histotype of pancreatic ductal carcinoma which is distinct from pancreatic adenocarcinoma (AC). Although there are standard treatments for pancreatic AC, no precise therapies exist for pancreatic SCC. Here, we screened 1033 cases of pancreatic cancer and identified 2 cases of pure SCC, which were pathologically diagnosed on the basis of finding definite intercellular bridges and/or focal keratin peal formation in the tumor cells. Immunohistochemistry assay confirmed the positive expression of CK5/6 and p63 in pancreatic SCC...
January 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099363/different-ret-gene-mutation-induced-multiple-endocrine-neoplasia-type-2a-in-3-chinese-families
#18
Qiuli Liu, Dali Tong, Wenqiang Yuan, Gaolei Liu, Gang Yuan, Weihua Lan, Dianzheng Zhang, Jun Zhang, Zaoming Huang, Yao Zhang, Jun Jiang
BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#19
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28098915/somatic-mutational-spectrum-analysis-in-a-prospective-series-of-104-gastrointestinal-stromal-tumors
#20
David Guenat, Olivier Deroo, Sandrine Magnin, Loïc Chaigneau, Franck Monnien, Christophe Borg, Christiane Mougin, Jean-François Emile, Jean-Luc Prétet
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors distinguished by driver mutations in proto-oncogenes KIT or PDGFRA in 85-90% of cases. These mutations have been linked to the response to imatinib, a multikinase inhibitor, and have independent prognostic impact. Here, we describe the prospective study of the molecular characteristics of 104 GISTs from French adult patients analyzed routinely through the National Hospital Program of Molecular Cancer Diagnosis. All patients with GISTs diagnosed at the University Hospital of Besançon between August 2005 and October 2014 were prospectively included in the present study...
January 17, 2017: Oncology Reports
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