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Mismatch repair

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https://www.readbyqxmd.com/read/28443315/metastatic-basal-cell-carcinoma-with-loss-of-p63-and-mismatch-repair-proteins
#1
Nathan M Johnson, Alex C Holliday, David T Luyimbazi, Mariana A Phillips, George R Collins, Douglas J Grider
No abstract text is available yet for this article.
May 2017: JAAD Case Reports
https://www.readbyqxmd.com/read/28443202/dna-methylation-assay-for-colorectal-carcinoma
#2
Ji-Jun Chen, Ai-Qin Wang, Qing-Qi Chen
Colorectal carcinoma (CRC) is a common cause of morbidity and mortality worldwide. Two pathogenic pathways are involved in the development of adenoma to CRC. The first pathway involvesAPC/β-catenin characterized by chromosomal instability resulting in the accumulation of mutations. The second pathway is characterized by lesions inDNA mismatch repair genes. Aberrant DNA methylation in selected gene promoters has emerged as a new epigenetic pathway in CRC development. CRC screening is the most efficient strategy to reduce death...
February 2017: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/28441855/-correlation-between-mismatch-repair-proteins-status-and-clinicopathological-characteristics-in-sporadic-colorectal-cancer-patients
#3
Z T Xiao, R X Zhang, Y Zhao, J H Peng, S X Lu, H Z Zhang, P R Ding, X J Wu, Z H Lu, L R Li, D S Wan, Z Z Pan, G Chen
Objective: To explore the expression of mismatch repair (MMR) proteins in sporadic colorectal cancer (SCRC) patients, and its association with clinicopathological characteristics of SCRC. Methods: Patients with histologically confirmed colorectal cancer were consecutively recruited between December 2011 and June 2015 at Sun Yat-sen University Cancer Center. The exclusion criteria included multiple primary colorectal tumors, hereditary colorectal cancer (including Lynch syndrome, familial adenomatous polyposis), and the patients without the MMR proteins status tested...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28439991/melatonin-a-pleiotropic-molecule-that-modulates-dna-damage-response-and-repair-pathways
#4
REVIEW
Maryam Majidinia, Alireza Sadeghpour, Saeed Mehrzadi, Russel J Reiter, Nasrin Khatami, Bahman Yousefi
DNA repair is responsible for maintaining the integrity of the genome. Perturbations in the DNA repair pathways have been identified in several human cancers. Thus, compounds targeting DNA damage response (DDR) hold great promise in cancer therapy. A great deal of effort, in pursuit of new anticancer drugs, has been devoted to understanding the basic mechanisms and functions of the cellular DNA repair machinery. Melatonin, a widely-produced indoleamine in all organisms is associated with a reduced risk of cancer and has multiple regulatory roles on the different aspects of the DDR and DNA repair...
April 25, 2017: Journal of Pineal Research
https://www.readbyqxmd.com/read/28439008/interaction-of-proliferating-cell-nuclear-antigen-with-pms2-is-required-for-mutl%C3%AE-activation-and-function-in-mismatch-repair
#5
Jochen Genschel, Lyudmila Y Kadyrova, Ravi R Iyer, Basanta K Dahal, Farid A Kadyrov, Paul Modrich
Eukaryotic MutLα (mammalian MLH1-PMS2 heterodimer; MLH1-PMS1 in yeast) functions in early steps of mismatch repair as a latent endonuclease that requires a mismatch, MutSα/β, and DNA-loaded proliferating cell nuclear antigen (PCNA) for activation. We show here that human PCNA and MutLα interact specifically but weakly in solution to form a complex of approximately 1:1 stoichiometry that depends on PCNA interaction with the C-terminal endonuclease domain of the MutLα PMS2 subunit. Amino acid substitution mutations within a PMS2 C-terminal (721)QRLIAP motif attenuate or abolish human MutLα interaction with PCNA, as well as PCNA-dependent activation of MutLα endonuclease, PCNA- and DNA-dependent activation of MutLα ATPase, and MutLα function in in vitro mismatch repair...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28436987/genomic-consequences-of-aberrant-dna-repair-mechanisms-stratify-ovarian-cancer-histotypes
#6
Yi Kan Wang, Ali Bashashati, Michael S Anglesio, Dawn R Cochrane, Diljot S Grewal, Gavin Ha, Andrew McPherson, Hugo M Horlings, Janine Senz, Leah M Prentice, Anthony N Karnezis, Daniel Lai, Mohamed R Aniba, Allen W Zhang, Karey Shumansky, Celia Siu, Adrian Wan, Melissa K McConechy, Hector Li-Chang, Alicia Tone, Diane Provencher, Manon de Ladurantaye, Hubert Fleury, Aikou Okamoto, Satoshi Yanagida, Nozomu Yanaihara, Misato Saito, Andrew J Mungall, Richard Moore, Marco A Marra, C Blake Gilks, Anne-Marie Mes-Masson, Jessica N McAlpine, Samuel Aparicio, David G Huntsman, Sohrab P Shah
We studied the whole-genome point mutation and structural variation patterns of 133 tumors (59 high-grade serous (HGSC), 35 clear cell (CCOC), 29 endometrioid (ENOC), and 10 adult granulosa cell (GCT)) as a substrate for class discovery in ovarian cancer. Ab initio clustering of integrated point mutation and structural variation signatures identified seven subgroups both between and within histotypes. Prevalence of foldback inversions identified a prognostically significant HGSC group associated with inferior survival...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28431723/successful-biventricular-conversion-late-after-primary-one-and-one-half-ventricle-repair
#7
Takaya Hoashi, Masataka Kitano, Koji Kagisaki, Hajime Ichikawa
A 6-year-old girl with unbalanced atrioventricular septal defect, hypoplastic right ventricle, and severe common atrioventricular valve regurgitation developed patient-prosthetic mismatch. At 6 months old, she underwent primary one and one-half ventricle repair and replacement of left side atrioventricular valve. A catheter examination showed that her right ventricular end-diastolic volume increased from 39.4 mL/m(2) 1 year after to 70 mL/m(2) 3.5 years after the previous surgery. Thus, at the timing of redo left side atrioventricular valve replacement, she was converted successfully to biventricular circulation...
May 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28427716/xenopus-egg-extract-a-powerful-tool-to-study-genome-maintenance-mechanisms
#8
REVIEW
Wouter S Hoogenboom, Daisy Klein Douwel, Puck Knipscheer
DNA repair pathways are crucial to maintain the integrity of our genome and prevent genetic diseases such as cancer. There are many different types of DNA damage and specific DNA repair mechanisms have evolved to deal with these lesions. In addition to these repair pathways there is an extensive signaling network that regulates processes important for repair, such as cell cycle control and transcription. Despite extensive research, DNA damage repair and signaling are not fully understood. In vitro systems such as the Xenopus egg extract system, have played, and still play, an important role in deciphering the molecular details of these processes...
April 17, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28427513/polymerase-proofreading-domain-mutations-new-opportunities-for-immunotherapy-in-hypermutated-colorectal-cancer-beyond-mmr-deficiency
#9
REVIEW
Rémi Bourdais, Benoît Rousseau, Anaïs Pujals, Helene Boussion, Charlotte Joly, Aude Guillemin, Isabelle Baumgaertner, Cindy Neuzillet, Christophe Tournigand
Immune checkpoint inhibition is a new therapeutic strategy that has shown promising efficacy in many cancer types. Significant activity associated with mismatch repair (MMR) deficiency has been observed in hypermutated, microsatellite unstable (MSI) metastatic colorectal cancer (CRC). Beyond deficient-MMR tumors, somatic or germline DNA polymerase D1 (POLD1) or DNA polymerase E (POLE) alterations cause a hypermutated phenotype in CRC. This recently identified and rare subgroup of proficient-MMR tumors may also benefit from immunotherapy...
May 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28426347/mismatch-repair-regulates-cdt1-after-uv-damage
#10
Andreas Panagopoulos, Stavros Taraviras, Zoi Lygerou
No abstract text is available yet for this article.
April 20, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28424422/limited-impact-of-intratumour-heterogeneity-on-molecular-risk-assignment-in-endometrial-cancer
#11
Manouk van Esterik, Inge C Van Gool, Cor D de Kroon, Remi A Nout, Carien L Creutzberg, Vincent T H B M Smit, Tjalling Bosse, Ellen Stelloo
INTRODUCTION: Individual prediction of tumour behaviour based on molecular markers may refine adjuvant treatment strategies in endometrial cancer (EC). As these molecular alterations are determined in a small tumour fraction, high intratumour heterogeneity may interfere with correct risk prediction. This study aimed to investigate to which extent intratumour heterogeneity exists for molecular markers and whether it affects the molecular risk assignment in EC. METHODS: Forty-nine ECs (three tumour blocks/case) were selected with alterations in POLE (n=10), CTNNB1 (n=8), p53 (n=10), mismatch repair (n=11), L1CAM (n=10), and ECs without any of these markers (n=9)...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422960/predicting-the-impact-of-lynch-syndrome-causing-missense-mutations-from-structural-calculations
#12
Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells...
April 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28422723/serrated-adenocarcinoma-morphology-in-colorectal-mucinous-adenocarcinoma-is-associated-with-improved-patient-survival
#13
Chung-Ta Lee, Yu-Chuan Huang, Liang-Yi Hung, Nan-Haw Chow, Pei-Fang Su, Chung-Liang Ho, Hung-Wen Tsai, Yi-Lin Chen, Shao-Chieh Lin, Bo-Wen Lin, Peng-Chan Lin, Jenq-Chang Lee
Colorectal mucinous adenocarcinoma (MAC) and serrated adenocarcinoma (SAC) share many characteristics, including right-side colon location, frequent mucin production, and various molecular features. This study examined the frequency of SAC morphology in MACs. We assessed the correlation of SAC morphology with clinicopathological parameters, molecular characteristics, and patient prognosis. Eighty-eight colorectal MACs were collected and reviewed for SAC morphology according to Makinen's criteria. We sequenced KRAS and BRAF, assessed CpG island methylator phenotype (CIMP) frequency, and analyzed DNA mismatch repair enzyme levels using immunohistochemistry in tumor samples...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418920/complementary-utility-of-targeted-next-generation-sequencing-and-immunohistochemistry-panels-as-a-screening-platform-to-select-targeted-therapy-for-advanced-gastric-cancer
#14
Hyo Song Kim, Hanna Lee, Su-Jin Shin, Seung-Hoon Beom, Minkyu Jung, Sujin Bae, Eun Young Lee, Kyu Hyun Park, Yoon Young Choi, Taeil Son, Hyoung-Il Kim, Jae-Ho Cheong, Woo Jin Hyung, Jun Chul Park, Sung Kwan Shin, Sang Kil Lee, Yong Chan Lee, Woong Sub Koom, Joon Seok Lim, Hyun Cheol Chung, Sung Hoon Noh, Sun Young Rha, Hyunki Kim, Soonmyung Paik
We tested the clinical utility of combined profiling of Ion Torrent PGM based next-generation sequencing (NGS) and immunohistochemistry (IHC) for assignment to molecularly targeted therapies. A consecutive cohort of 93 patients with advanced/metastatic GC who underwent palliative chemotherapy between March and December 2015 were prospectively enrolled. Formalin fixed paraffin embedded tumor biopsy specimens were subjected to a 10 GC panels [Epstein Barr virus encoding RNA in-situ hybridization, IHC for mismatch repair proteins (MMR; MLH1, PMS2, MSH2, and MSH6), receptor tyrosine kinases (HER2, EGFR, and MET), PTEN, and p53 protein], and a commercial targeted NGS panel of 52 genes (Oncomine Focus Assay)...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418918/the-pd-1-pd-l1-expression-and-cd3-t-cell-infiltration-in-relation-to-outcome-in-advanced-gastric-signet-ring-cell-carcinoma-representing-a-potential-biomarker-for-immunotherapy
#15
Shenying Jin, Bo Xu, Lixia Yu, Yao Fu, Hongyan Wu, Xiangshan Fan, Jia Wei, Baorui Liu
Recent data supports a potentially significant role for immune checkpoint inhibitors in the treatment of gastric cancer. However, there are few data on the clinical implications of immunotherapy markers in gastric signet-ring cell carcinoma (SRCC). We evaluated the expression of programmed cell death protein-1 (PD-1), programmed cell death ligand 1(PD-L1), infiltration by CD3+ T cell, microsatellite instability (MSI), and Epstein-Barr Virus (EBV), and the relationship of each factor to survival in 89 advanced SRCC patients...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418444/associations-between-cancer-predisposition-testing-panel-genes-and-breast-cancer
#16
Fergus J Couch, Hermela Shimelis, Chunling Hu, Steven N Hart, Eric C Polley, Jie Na, Emily Hallberg, Raymond Moore, Abigail Thomas, Jenna Lilyquist, Bingjian Feng, Rachel McFarland, Tina Pesaran, Robert Huether, Holly LaDuca, Elizabeth C Chao, David E Goldgar, Jill S Dolinsky
Importance: Germline pathogenic variants in BRCA1 and BRCA2 predispose to an increased lifetime risk of breast cancer. However, the relevance of germline variants in other genes from multigene hereditary cancer testing panels is not well defined. Objective: To determine the risks of breast cancer associated with germline variants in cancer predisposition genes. Design, Setting, and Participants: A study population of 65 057 patients with breast cancer receiving germline genetic testing of cancer predisposition genes with hereditary cancer multigene panels...
April 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28416767/the-molecular-heterogeneity-of-sporadic-colorectal-cancer-with-different-tumor-sites-in-chinese-patients
#17
Junjie Peng, Dan Huang, Graeme Poston, Xiaoji Ma, Renjie Wang, Weiqi Sheng, Xiaoyan Zhou, Xiaoli Zhu, Sanjun Cai
PURPOSE: To assess the biological variability of clinical meaningful molecular markers and their clinical correlations in Chinese patients with colorectal cancer (CRC). MATERIALS AND METHODS: In this prospective observational study, frequencies and clinico-pathological features of RAS and BRAFV600E mutations, deficiency of DNA mismatch repair (dMMR) were evaluated in patients with colorectal cancer staged I-IV. The molecular heterogeneity between right-sided and left-sided colorectal cancers was studied in our series by classifying patients with different mutations and dMMR status...
March 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28416670/alterations-in-cellular-metabolism-triggered-by-ura7-or-gln3-inactivation-cause-imbalanced-dntp-pools-and-increased-mutagenesis
#18
Tobias T Schmidt, Gloria Reyes, Kerstin Gries, Cemile Ümran Ceylan, Sushma Sharma, Matthias Meurer, Michael Knop, Andrei Chabes, Hans Hombauer
Eukaryotic DNA replication fidelity relies on the concerted action of DNA polymerase nucleotide selectivity, proofreading activity, and DNA mismatch repair (MMR). Nucleotide selectivity and proofreading are affected by the balance and concentration of deoxyribonucleotide (dNTP) pools, which are strictly regulated by ribonucleotide reductase (RNR). Mutations preventing DNA polymerase proofreading activity or MMR function cause mutator phenotypes and consequently increased cancer susceptibility. To identify genes not previously linked to high-fidelity DNA replication, we conducted a genome-wide screen in Saccharomyces cerevisiae using DNA polymerase active-site mutants as a "sensitized mutator background...
April 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28413802/first-reported-case-of-alveolar-soft-part-sarcoma-in-constitutional-mismatch-repair-deficiency-syndrome-tumor-spectrum-diagnosed-in-one-of-the-siblings-with-constitutional-mismatch-repair-deficiency
#19
Mitul Bipinchandra Modi, Pratik N Patel, Vishal M Modi, Shailee P Mehta, Ramrao G Nilkanthe, Priyesh H Patel, Priti P Trivedi, Dhaval H Jetly
No abstract text is available yet for this article.
January 2017: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/28408367/variability-in-chromatin-architecture-and-associated-dna-repair-at-genomic-positions-containing-somatic-mutations
#20
Byungho Lim, Jihyeob Mun, Yong Sung Kim, Seon-Young Kim
Dynamic chromatin structures result in differential chemical reactivity to mutational processes throughout the genome. To identify chromatin features responsible for mutagenesis, we compared chromatin architecture around single-nucleotide variants (SNV), insertion/deletions (indels) and their context-matched, non-mutated positions. We found epigenetic differences between genomic regions containing missense SNV and those containing frameshift indels across multiple cancer types. Levels active histone marks were higher around frameshift indels than around missense SNV, whereas repressive histone marks exhibited the reverse trend...
April 13, 2017: Cancer Research
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