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https://www.readbyqxmd.com/read/28651379/klf4-is-a-tumor-suppressor-in-anaplastic-meningioma-stem-like-cells-and-human-meningiomas
#1
Hailiang Tang, Xuanchun Wang, Hongda Zhu, Lingyang Hua, Jingrun Li, Qing Xie, Xiancheng Chen, Tao Zhang, Ye Gong
Meningiomas are the most common primary tumors in central nervous system. While recent studies have revealed genetic clues to lower grade human meningiomas, the molecular determinants driving the progression and recurrence of anaplastic meningioma, the most malignant subtype with a low prevalence but high morbidity, are still poorly understood. It has been proposed that high recurrence rates of malignant meningiomas are linked to cancer stem cells. Indeed, tumor stem-like cells have been isolated from various meningioma subtypes, but never been obtained from anaplastic meningioma...
June 26, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28651158/prospective-validation-of-a-lymphocyte-infiltration-prognostic-test-in-stage-iii-colon-cancer-patients-treated-with-adjuvant-folfox
#2
Jean-François Emile, Catherine Julié, Karine Le Malicot, Come Lepage, Josep Tabernero, Enrico Mini, Gunnar Folprecht, Jean-Luc Van Laethem, Stéphanie Dimet, Camille Boulagnon-Rombi, Marc-Antoine Allard, Frédérique Penault-Llorca, Jaafar Bennouna, Pierre Laurent-Puig, Julien Taieb
BACKGROUND: The prognostic value of lymphocyte infiltration (LI) of colorectal carcinoma (CC) has been demonstrated by several groups. However, no validated test is currently available for clinical practice. We previously described an automated and reproducible method for testing LI and aimed to validate it for clinical use. PATIENTS AND METHODS: According to National Institutes of Health criteria, we designed a prospective validation of this biomarker in patients included in the PETACC8 phase III study...
June 23, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28650955/netnorm-capturing-cancer-relevant-information-in-somatic-exome-mutation-data-with-gene-networks-for-cancer-stratification-and-prognosis
#3
Marine Le Morvan, Andrei Zinovyev, Jean-Philippe Vert
Genome-wide somatic mutation profiles of tumours can now be assessed efficiently and promise to move precision medicine forward. Statistical analysis of mutation profiles is however challenging due to the low frequency of most mutations, the varying mutation rates across tumours, and the presence of a majority of passenger events that hide the contribution of driver events. Here we propose a method, NetNorM, to represent whole-exome somatic mutation data in a form that enhances cancer-relevant information using a gene network as background knowledge...
June 26, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28650484/insertional-mutagenesis-identifies-drivers-of-a-novel-oncogenic-pathway-in-invasive-lobular-breast-carcinoma
#4
Sjors M Kas, Julian R de Ruiter, Koen Schipper, Stefano Annunziato, Eva Schut, Sjoerd Klarenbeek, Anne Paulien Drenth, Eline van der Burg, Christiaan Klijn, Jelle J Ten Hoeve, David J Adams, Marco J Koudijs, Jelle Wesseling, Micha Nethe, Lodewyk F A Wessels, Jos Jonkers
Invasive lobular carcinoma (ILC) is the second most common breast cancer subtype and accounts for 8-14% of all cases. Although the majority of human ILCs are characterized by the functional loss of E-cadherin (encoded by CDH1), inactivation of Cdh1 does not predispose mice to develop mammary tumors, implying that mutations in additional genes are required for ILC formation in mice. To identify these genes, we performed an insertional mutagenesis screen using the Sleeping Beauty transposon system in mice with mammary-specific inactivation of Cdh1...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650276/highlights-of-the-san-antonio-breast-cancer-symposium-2016
#5
John R Benson, Ismail Jatoi
The 39th annual San Antonio Breast Cancer Symposium (SABCS) was convened in San Antonio, Texas, on 9-13 December 2016. More than 7000 clinicians and scientists from around the world participated in the symposium which featured a range of presentations and keynote talks pertaining to breast cancer screening, prevention, locoregional and systemic therapies. This two-part report highlights a selection of important studies presented at this premier breast cancer event with Part 1 focusing onmetastatic breast cancer, extended endocrine therapy and the prognostic significance of BRCA1/2 gene mutations...
June 26, 2017: Future Oncology
https://www.readbyqxmd.com/read/28649990/a-pan-cancer-genome-wide-analysis-reveals-tumour-dependencies-by-induction-of-nonsense-mediated-decay
#6
Zhiyuan Hu, Christopher Yau, Ahmed Ashour Ahmed
Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. Although NMD-induced loss-of-function has been shown to contribute to the genesis of particular cancers, its global functional consequence in tumours has not been characterized. Here we develop an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas. We identify more than 73 K mutations that are predicted to elicit NMD (NMD-elicit). NMD-elicit mutations in tumour suppressor genes (TSGs) are associated with significant reduction in gene expression...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649985/attenuation-of-rna-polymerase-ii-pausing-mitigates-brca1-associated-r-loop-accumulation-and-tumorigenesis
#7
Xiaowen Zhang, Huai-Chin Chiang, Yao Wang, Chi Zhang, Sabrina Smith, Xiayan Zhao, Sreejith J Nair, Joel Michalek, Ismail Jatoi, Meeghan Lautner, Boyce Oliver, Howard Wang, Anna Petit, Teresa Soler, Joan Brunet, Francesca Mateo, Miguel Angel Pujana, Elizabeth Poggi, Krysta Chaldekas, Claudine Isaacs, Beth N Peshkin, Oscar Ochoa, Frederic Chedin, Constantine Theoharis, Lu-Zhe Sun, Tyler J Curiel, Richard Elledge, Victor X Jin, Yanfen Hu, Rong Li
Most BRCA1-associated breast tumours are basal-like yet originate from luminal progenitors. BRCA1 is best known for its functions in double-strand break repair and resolution of DNA replication stress. However, it is unclear whether loss of these ubiquitously important functions fully explains the cell lineage-specific tumorigenesis. In vitro studies implicate BRCA1 in elimination of R-loops, DNA-RNA hybrid structures involved in transcription and genetic instability. Here we show that R-loops accumulate preferentially in breast luminal epithelial cells, not in basal epithelial or stromal cells, of BRCA1 mutation carriers...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649977/convection-shapes-the-trade-off-between-antibiotic-efficacy-and-the-selection-for-resistance-in-spatial-gradients
#8
Matti Gralka, Diana Fusco, Stephen Martis, Oskar Hallatschek
Since penicillin was discovered about 90 years ago, we have become used to using drugs to eradicate unwanted pathogenic cells. However, using drugs to kill bacteria, viruses or cancer cells has the serious side effect of selecting for mutant types that survive the drug attack. A key question therefore is how one could eradicate as many cells as possible for a given acceptable risk of drug resistance evolution. We address this general question in a model of drug resistance evolution in spatial drug gradients, which recent experiments and theories have suggested as key drivers of drug resistance...
June 26, 2017: Physical Biology
https://www.readbyqxmd.com/read/28649742/genotranscriptomic-meta-analysis-of-the-chd-family-chromatin-remodelers-in-human-cancers-initial-evidence-of-an-oncogenic-role-for-chd7
#9
Xiaofang Chu, Xuhui Guo, Yuanyuan Jiang, Huimei Yu, Lanxin Liu, Wenqi Shan, Zeng-Quan Yang
Chromodomain helicase DNA binding proteins (CHD) are characterized by N-terminal tandem chromodomains and a central ATP-dependent helicase domain. CHDs govern the cellular machinery's access to DNA, thereby playing critical roles in various cellular processes including transcription, proliferation, and DNA damage repair. Accumulating evidence demonstrates that mutation and dysregulation of CHDs are implicated in the pathogenesis of developmental disorders and cancer. However, we know little about genomic and transcriptomic alterations and the clinical significance of most CHDs in human cancer...
June 26, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28649662/the-contribution-of-pathogenic-variants-in-breast-cancer-susceptibility-genes-to-familial-breast-cancer-risk
#10
Thomas P Slavin, Kara N Maxwell, Jenna Lilyquist, Joseph Vijai, Susan L Neuhausen, Steven N Hart, Vignesh Ravichandran, Tinu Thomas, Ann Maria, Danylo Villano, Kasmintan A Schrader, Raymond Moore, Chunling Hu, Bradley Wubbenhorst, Brandon M Wenz, Kurt D'Andrea, Mark E Robson, Paolo Peterlongo, Bernardo Bonanni, James M Ford, Judy E Garber, Susan M Domchek, Csilla Szabo, Kenneth Offit, Katherine L Nathanson, Jeffrey N Weitzel, Fergus J Couch
Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and proposed breast cancer susceptibility genes. Targeted massively-parallel sequencing was performed to identify mutations and copy number variants in 26 known or proposed breast cancer susceptibility genes in 2134 BRCA1/2-negative women with familial breast cancer (proband with breast cancer and a family history of breast or ovarian cancer) from a largely European-Caucasian multi-institutional cohort...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649653/an-alternative-model-for-breast-cancer-predisposition
#11
REVIEW
Erik Teugels, Sylvia De Brakeleer
While environmental factors can greatly increase cancer risk, it is clear that an individual's genetic constitution has strong impact on tumor formation. Hereby we present an alternative cancer predisposition model built on the assumption that efficiencies of DNA maintenance mechanisms in normal cells are similar but not identical for each person. Small variations in an individual's genetic constitution may result in slightly increased genomic instability and generate typical mutational signatures in normal cells...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649647/moonshots-and-metastatic-disease-the-need-for-a-multi-faceted-approach-when-studying-atypical-responses
#12
REVIEW
Kristine De La Torre, Elly Cohen, Anne Loeser, Marc Hurlbert
Clinical research generally focuses on results involving a statistical mean with little attention in trial design to patients who respond considerably better or worse than average. Exploring the reasons underlying an "atypical response" will increase understanding of the mechanisms involved in cancer progression and treatment resistance, accelerate biomarker identification, and improve precision medicine by allowing clinicians to prospectively select optimal treatments. Based on our review, we suggest two ways to move this field forward...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649636/interplay-of-space-radiation-and-microgravity-in-dna-damage-and-dna-damage-response
#13
María Moreno-Villanueva, Michael Wong, Tao Lu, Ye Zhang, Honglu Wu
In space, multiple unique environmental factors, particularly microgravity and space radiation, pose constant threat to the DNA integrity of living organisms. Specifically, space radiation can cause damage to DNA directly, through the interaction of charged particles with the DNA molecules themselves, or indirectly through the production of free radicals. Although organisms have evolved strategies on Earth to confront such damage, space environmental conditions, especially microgravity, can impact DNA repair resulting in accumulation of severe DNA lesions...
2017: NPJ Microgravity
https://www.readbyqxmd.com/read/28649509/fabry-disease-four-case-reports-of-meningioma-and-a-review-of-the-literature-on-other-malignancies
#14
Beth L Thurberg, Dominique P Germain, Fernando Perretta, Iulia E Jurca-Simina, Juan M Politei
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649487/rapid-decrease-of-circulating-tumor-dna-predicted-the-treatment-effect-of-nivolumab-in-a-lung-cancer-patient-within-only-5-days
#15
Yuki Iijima, Yosuke Hirotsu, Kenji Amemiya, Seishi Higashi, Yoshihiro Miyashita, Masao Omata
A 77-year-old Japanese man presented to our hospital with a 1-month history of low back pain and was diagnosed as having stage IV EGFR mutation-positive lung adenocarcinoma. After treatment with EGFR tyrosine kinase inhibitor and cytotoxic chemotherapy, nivolumab was started as fourth-line therapy. Remarkable regression of the primary tumor was observed, suggesting high anti-tumor activity of nivolumab. We retrospectively investigated the change in circulating tumor DNA (ctDNA) variant allele fractions in serial plasma samples before and after the nivolumab therapy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28649441/clinical-responses-to-erk-inhibition-in-braf-v600e-mutant-colorectal-cancer-predicted-using-a-computational-model
#16
Daniel C Kirouac, Gabriele Schaefer, Jocelyn Chan, Mark Merchant, Christine Orr, Shih-Min A Huang, John Moffat, Lichuan Liu, Kapil Gadkar, Saroja Ramanujan
Approximately 10% of colorectal cancers harbor BRAF(V600E) mutations, which constitutively activate the MAPK signaling pathway. We sought to determine whether ERK inhibitor (GDC-0994)-containing regimens may be of clinical benefit to these patients based on data from in vitro (cell line) and in vivo (cell- and patient-derived xenograft) studies of cetuximab (EGFR), vemurafenib (BRAF), cobimetinib (MEK), and GDC-0994 (ERK) combinations. Preclinical data was used to develop a mechanism-based computational model linking cell surface receptor (EGFR) activation, the MAPK signaling pathway, and tumor growth...
2017: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/28649435/improved-prediction-of-parp-inhibitor-response-and-identification-of-synergizing-agents-through-use-of-a-novel-gene-expression-signature-generation-algorithm
#17
Daniel J McGrail, Curtis Chun-Jen Lin, Jeannine Garnett, Qingxin Liu, Wei Mo, Hui Dai, Yiling Lu, Qinghua Yu, Zhenlin Ju, Jun Yin, Christopher P Vellano, Bryan Hennessy, Gordon B Mills, Shiaw-Yih Lin
Despite rapid advancement in generation of large-scale microarray gene expression datasets, robust multigene expression signatures that are capable of guiding the use of specific therapies have not been routinely implemented into clinical care. We have developed an iterative resampling analysis to predict sensitivity algorithm to generate gene expression sensitivity profiles that predict patient responses to specific therapies. The resultant signatures have a robust capacity to accurately predict drug sensitivity as well as the identification of synergistic combinations...
2017: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/28649135/synthetic-lethality-and-cancer
#18
REVIEW
Nigel J O'Neil, Melanie L Bailey, Philip Hieter
A synthetic lethal interaction occurs between two genes when the perturbation of either gene alone is viable but the perturbation of both genes simultaneously results in the loss of viability. Key to exploiting synthetic lethality in cancer treatment are the identification and the mechanistic characterization of robust synthetic lethal genetic interactions. Advances in next-generation sequencing technologies are enabling the identification of hundreds of tumour-specific mutations and alterations in gene expression that could be targeted by a synthetic lethality approach...
June 26, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/28648934/molecular-alterations-in-lesions-of-anogenital-mammary-like-glands-and-their-mammary-counterparts-including-hidradenoma-papilliferum-intraductal-papilloma-fibroadenoma-and-phyllodes-tumor
#19
Anastasia M Konstantinova, Tomas Vanecek, Petr Martinek, Liubov Kyrpychova, Dominic V Spagnolo, Colin J R Stewart, Francesca Portelli, Michal Michal, Dmitry V Kazakov
Lesions affecting anogenital mammary-like glands (AGMLG) are histopathologically very similar to those seen in the breast but whether this morphological similarity is also reflected at the genetic level is unknown. To compare the underlying molecular mechanisms in lesions of AGMLG and their mammary counterparts, we analyzed the mutational profile of 16 anogenital neoplasms including 5 hidradenomas papilliferum (HP), 1 lesion with features of HP and fibroadenoma (FA), 7 FA, 3 phyllodes tumors (PhT)) and 18 analogous breast lesions (6 intraductal papillomas (IDP), 9 FA, and 3 PhT) by high-coverage next generation sequencing (NGS) using a panel comprising 50 cancer-related genes...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28648777/mtorc2-regulates-amino-acid-metabolism-in-cancer-by-phosphorylation-of-the-cystine-glutamate-antiporter-xct
#20
Yuchao Gu, Claudio P Albuquerque, Daniel Braas, Wei Zhang, Genaro R Villa, Junfeng Bi, Shiro Ikegami, Kenta Masui, Beatrice Gini, Huijun Yang, Timothy C Gahman, Andrew K Shiau, Timothy F Cloughesy, Heather R Christofk, Huilin Zhou, Kun-Liang Guan, Paul S Mischel
Mutations in cancer reprogram amino acid metabolism to drive tumor growth, but the molecular mechanisms are not well understood. Using an unbiased proteomic screen, we identified mTORC2 as a critical regulator of amino acid metabolism in cancer via phosphorylation of the cystine-glutamate antiporter xCT. mTORC2 phosphorylates serine 26 at the cytosolic N terminus of xCT, inhibiting its activity. Genetic inhibition of mTORC2, or pharmacologic inhibition of the mammalian target of rapamycin (mTOR) kinase, promotes glutamate secretion, cystine uptake, and incorporation into glutathione, linking growth factor receptor signaling with amino acid uptake and utilization...
June 22, 2017: Molecular Cell
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