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https://www.readbyqxmd.com/read/28088761/amplification-of-unscheduled-dna-synthesis-signal-enables-fluorescence-based-single-cell-quantification-of-transcription-coupled-nucleotide-excision-repair
#1
Franziska Wienholz, Wim Vermeulen, Jurgen A Marteijn
Nucleotide excision repair (NER) comprises two damage recognition pathways: global genome NER (GG-NER) and transcription-coupled NER (TC-NER), which remove a wide variety of helix-distorting lesions including UV-induced damage. During NER, a short stretch of single-stranded DNA containing damage is excised and the resulting gap is filled by DNA synthesis in a process called unscheduled DNA synthesis (UDS). UDS is measured by quantifying the incorporation of nucleotide analogues into repair patches to provide a measure of NER activity...
January 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28087410/repair-of-8-oxog-a-mismatches-by-the-mutyh-glycosylase-mechanism-metals-medicine
#2
REVIEW
Douglas M Banda, Nicole N Nuñez, Michael A Burnside, Katie M Bradshaw, Sheila S David
Reactive oxygen and nitrogen species (RONS) may infringe on the passing of pristine genetic information by inducing DNA inter- and intra-strand crosslinks, protein-DNA crosslinks, and chemical alterations to the sugar or base moieties of DNA. 8-Oxo-7,8-dihydroguanine (8-oxoG) is one of the most prevalent DNA lesions formed by RONS and is repaired through the base excision repair (BER) pathway involving the DNA repair glycosylases OGG1 and MUTYH in eukaryotes. MUTYH removes adenine (A) from 8-oxoG:A mispairs, thus mitigating the potential of G:C to T:A transversion mutations from occurring in the genome...
January 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28081123/yersinia-enterocolitica-a-neglected-cause-of-human-enteric-infections-in-c%C3%A3-te-d-ivoire
#3
Daniel Saraka, Cyril Savin, Stephane Kouassi, Bakary Cissé, Eugène Koffi, Nicolas Cabanel, Sylvie Brémont, Hortense Faye-Kette, Mireille Dosso, Elisabeth Carniel
BACKGROUND: Enteropathogenic Yersinia circulate in the pig reservoir and are the third bacterial cause of human gastrointestinal infections in Europe. In West Africa, reports of human yersiniosis are rare. This study was conducted to determine whether pathogenic Yersinia are circulating in pig farms and are responsible for human infections in the Abidjan District. METHODOLOGY/PRINCIPAL FINDINGS: From June 2012 to December 2013, pig feces were collected monthly in 41 swine farms of the Abidjan district...
January 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28081035/removal-of-ribonucleotides-by-p53-protein-incorporated-during-dna-synthesis-by-hiv-1-reverse-transcriptase
#4
Tzofit Akua, Galia Rahav, Yossi Saragani, Amnon Hizi, Mary Bakhanashvili
OBJECTIVE(S): HIV-1 reverse transcriptase frequently incorporates ribonucleotides into the proviral DNA in macrophages, but not in lymphocytes. The enzyme exerts an efficient ribonucleotide-terminated primer extension capacity. Furthermore, ribonucleotide-editing repair is attenuated in macrophages. Tumor suppressor p53 protein, displaying an intrinsic 3'→5' exonuclease activity, was found to be involved in efficient proofreading of base-base mismatches produced during DNA synthesis...
January 28, 2017: AIDS
https://www.readbyqxmd.com/read/28079598/interobserver-agreement-in-endometrial-carcinoma-histotype-diagnosis-varies-depending-on-the-cancer-genome-atlas-tcga-based-molecular-subgroup
#5
Lien N Hoang, Mary A Kinloch, Joyce M Leo, Katherine Grondin, Cheng-Han Lee, Carol Ewanowich, Martin Köbel, Angela Cheng, Aline Talhouk, Melissa McConechy, David G Huntsman, Jessica N McAlpine, Robert A Soslow, C Blake Gilks
The Cancer Genome Atlas recently identified a genomic-based molecular classification of endometrial carcinomas, with 4 molecular categories: (1) ultramutated (polymerase epsilon [POLE] mutated), (2) hypermutated (microsatellite instability), (3) copy number abnormalities-low, and (4) copy number abnormalities-high. Two studies have since proposed models to classify endometrial carcinomas into 4 molecular subgroups, modeled after The Cancer Genome Atlas, using simplified and more clinically applicable surrogate methodologies...
February 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28074003/dna-polymerase-beta-germline-variant-confers-cellular-response-to-cisplatin-therapy
#6
Antonia A Nemec, Laura Abriola, Jane S Merkel, Elisa deStanchina, Michelle DeVeaux, Daniel Zelterman, Peter M Glazer, Joann B Sweasy
: Resistance to cancer chemotherapies leads to deadly consequences, yet current research focuses only on the roles of somatically acquired mutations in this resistance. The mutational status of the germline is also likely to play a role in the way cells respond to chemotherapy. The carrier status for the POLB rs3136797 germline mutation encoding P242R DNA polymerase beta (Pol β) is associated with poor prognosis for lung cancer, specifically in response to treatment with cisplatin. Here, it is revealed that the P242R mutation is sufficient to promote resistance to cisplatin in human cells and in mouse xenografts...
January 10, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28073708/juvenile-dermatomyositis-positive-for-anti-dna-mismatch-repair-enzyme-antibodies
#7
Naoko Kubo, Koichi Yanaba, Sota Kikuchi, Osamu Fukuchi, Hidemi Nakagawa, Hiroyuki Namba, Yoshinao Muro
No abstract text is available yet for this article.
January 11, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28073364/lack-of-mre11-rad50-nbs1-mrn-complex-detection-occurs-frequently-in-low-grade-epithelial-ovarian-cancer
#8
Simone Brandt, Eleftherios P Samartzis, Anne-Katrin Zimmermann, Daniel Fink, Holger Moch, Aurelia Noske, Konstantin J Dedes
BACKGROUND: BRCA1/2-deficient ovarian carcinomas are recognized as target for Poly (ADP-ribose) polymerase (PARP) inhibitors. BRCA1 and BRCA2 proteins are involved in homologous recombination repair of double-strand DNA breaks. The relevance of other homologous recombination repair proteins, e.g. MRE11, RAD50, NBS1 (MRN complex) in ovarian carcinomas is unclear. The objective of this study was to investigate the prevalence of lack of MRE11, RAD50, NBS1 protein detection in epithelial ovarian cancer (EOC)...
January 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28067827/clinical-significance-and-prognostic-relevance-of-microsatellite-instability-in-sporadic-colorectal-cancer-patients
#9
REVIEW
Angelika Copija, Dariusz Waniczek, Andrzej Witkoś, Katarzyna Walkiewicz, Ewa Nowakowska-Zajdel
Microsatellite instability (MSI) is a marker of the replication error phenotype. It is caused by impaired DNA mismatch repair processes (MMR), resulting in ineffectiveness of the mechanisms responsible for the DNA replication precision and postreplicative DNA repair. MSI underlies the pathogenesis of 10%-20% of colorectal cancer (CRC) cases. The data about the potential value of MMR status as a predictive factor for 5-fluorouracil (FU)-based chemotherapy remain unclear. According to National Comprehensive Cancer Network updated guidelines, MSI testing is recommended for all patients with stage II CRC because patients with MSI-H (high-frequency MSI) tumour may have a good prognosis and obtain no benefit from 5-FU-based adjuvant chemotherapy...
January 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28065618/pathological-features-and-clinical-behavior-of-lynch-syndrome-associated-ovarian-cancer
#10
N A J Ryan, D G Evans, K Green, E J Crosbie
OBJECTIVE: Lynch syndrome (LS) is an inherited tumor predisposition condition caused by mutations in the mismatch repair (MMR) genes. Mutation carriers are at increased risk of various malignancies, including ovarian cancer (OC). Relatively little is known about the pathological features and clinical behavior of LS associated OC. METHODS: We analyzed the data of 1047 proven MMR mutated individuals from a prospectively maintained database at a large referral center for genomic medicine in the North West of England...
January 5, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28063788/response-to-chemotherapy-and-prognosis-in-metastatic-colorectal-cancer-with-dna-deficient-mismatch-repair
#11
Alexandra Khichfy Alex, Sheila Siqueira, Renata Coudry, Juliana Santos, Michel Alves, Paulo M Hoff, Rachel P Riechelmann
BACKGROUND: DNA deficient mismatch repair (dMMR) genes are associated with microsatellite instability and good prognosis in early-stage colorectal cancer (CRC). However dMMR is rare in metastatic CRC (mCRC) and little is known about its influence on treatment response rate (RR). The primary objective of this study was to compare the RR of patients with mCRC according to dMMR status. METHODS: This was a retrospective study that compared the RR by Response Evaluation Criteria In Solid Tumors 1...
November 26, 2016: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/28062036/inserting-extrahelical-structures-into-long-dna-substrates-for-single-molecule-studies-of-dna-mismatch-repair
#12
M W Brown, A de la Torre, I J Finkelstein
The DNA mismatch repair (MMR) system corrects errors that occur during DNA replication. MMR needs the coordinated and highly dynamic assembly of repair enzymes at the site of the lesion. By visualizing transient intermediates of these assemblies, single-molecule approaches have shed critical insights into the mechanisms of MMR. These studies frequently require long (>20kb) DNA substrates with lesions and other extrahelical structures inserted at defined positions. DNA derived from bacteriophage λ (λ-DNA) is a high quality long (48...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28061006/confirmation-of-promise-a-simple-genomics-based-clinical-classifier-for-endometrial-cancer
#13
Aline Talhouk, Melissa K McConechy, Samuel Leung, Winnie Yang, Amy Lum, Janine Senz, Niki Boyd, Judith Pike, Michael Anglesio, Janice S Kwon, Anthony N Karnezis, David G Huntsman, C Blake Gilks, Jessica N McAlpine
BACKGROUND: Classification of endometrial carcinomas (ECs) by morphologic features is irreproducible and imperfectly reflects tumor biology. The authors developed the Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE), a molecular classification system based on The Cancer Genome Atlas genomic subgroups, and sought to confirm both feasibility and prognostic ability in a new, large cohort of ECs. METHODS: Immunohistochemistry (IHC) for the presence or absence of mismatch repair (MMR) proteins (to identify MMR deficiency [MMR-D]), sequencing for polymerase-ɛ (POLE) exonuclease domain mutations (POLE EDMs), and IHC for tumor protein 53 (p53) (wild type vs null/missense mutations; p53 wt and p53 abn, respectively) were performed on 319 new EC samples...
January 6, 2017: Cancer
https://www.readbyqxmd.com/read/28053122/a-semi-protected-oligonucleotide-recombination-assay-for-dna-mismatch-repair-in-vivo-suggests-different-modes-of-repair-for-lagging-strand-mismatches
#14
Eric A Josephs, Piotr E Marszalek
In Escherichia coli, a DNA mismatch repair (MMR) pathway corrects errors that occur during DNA replication by coordinating the excision and re-synthesis of a long tract of the newly-replicated DNA between an epigenetic signal (a hemi-methylated d(GATC) site or a single-stranded nick) and the replication error after the error is identified by protein MutS. Recent observations suggest that this 'long-patch repair' between these sites is coordinated in the same direction of replication by the replisome. Here, we have developed a new assay that uniquely allows us to introduce targeted 'mismatches' directly into the replication fork via oligonucleotide recombination, examine the directionality of MMR, and quantify the nucleotide-dependence, sequence context-dependence, and strand-dependence of their repair in vivo-something otherwise nearly impossible to achieve...
January 3, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28051769/concerted-action-of-the-mutl%C3%AE-heterodimer-and-mer3-helicase-regulates-the-global-extent-of-meiotic-gene-conversion
#15
Yann Duroc, Rajeev Kumar, Lepakshi Ranjha, Céline Adam, Raphaël Guérois, Khan Md Muntaz, Marie-Claude Marsolier-Kergoat, Florent Dingli, Raphaëlle Laureau, Damarys Loew, Bertrand Llorente, Jean-Baptiste Charbonnier, Petr Cejka, Valérie Borde
Gene conversions resulting from meiotic recombination are critical in shaping genome diversification and evolution. How the extent of gene conversions is regulated is unknown. Here we show that the budding yeast mismatch repair related MutLβ complex, Mlh1-Mlh2, specifically interacts with the conserved meiotic Mer3 helicase, which recruits it to recombination hotspots, independently of mismatch recognition. This recruitment is essential to limit gene conversion tract lengths genome-wide, without affecting crossover formation...
January 4, 2017: ELife
https://www.readbyqxmd.com/read/28043989/impact-of-thoracic-endovascular-aortic-repair-on-radial-strain-in-an-ex-vivo-porcine-model
#16
Foeke J H Nauta, Hector W L de Beaufort, Michele Conti, Stefania Marconi, Arnoud V Kamman, Anna Ferrara, Joost A van Herwaarden, Frans L Moll, Ferdinando Auricchio, Santi Trimarchi
OBJECTIVES: To quantify the impact of thoracic endovascular aortic repair (TEVAR) on radial aortic strain with the aim of elucidating stent-graft-induced stiffening and complications. METHODS: Twenty fresh thoracic porcine aortas were connected to a mock circulatory loop driven by a centrifugal flow pump. A high-definition camera captured diameters at five different pressure levels (100, 120, 140, 160, and 180 mmHg), before and after TEVAR. Three oversizing groups were created: 0-9% (n = 7), 10-19% (n = 6), and 20-29% (n = 6)...
January 2, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28040692/prognostic-value-of-braf%C3%A2-and%C3%A2-kras%C3%A2-mutations-in-msi-and-mss-stage-iii-colon-cancer
#17
Julien Taieb, Karine Le Malicot, Qian Shi, Frédérique Penault Lorca, Olivier Bouché, Josep Tabernero, Enrico Mini, Richard M Goldberg, Gunnar Folprecht, Jean Luc Van Laethem, Daniel J Sargent, Steven R Alberts, Jean Francois Emile, Pierre Laurent Puig, Frank A Sinicrope
BACKGROUND: The prognostic value of BRAF and KRAS mutations within microsatellite-unstable (MSI) and microsatellite-stable (MSS) subgroups of resected colon carcinoma patients remains controversial. We examined this question in prospectively collected biospecimens from stage III colon cancer with separate analysis of MSI and MSS tumors from patients receiving adjuvant FOLFOX +/- cetuximab in two adjuvant therapy trials. METHODS: Three groups were defined: BRAF Mutant, KRAS Mutant, and double wild-type...
May 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28039326/proximity-to-agct-sequences-dictates-mmr-independent-versus-mmr-dependent-mechanisms-for-aid-induced-mutation-via-ung2
#18
Eddy Sanchai Thientosapol, George Sharbeen, K K Edwin Lau, Daniel Bosnjak, Timothy Durack, Igor Stevanovski, Wolfgang Weninger, Christopher J Jolly
AID deaminates C to U in either strand of Ig genes, exclusively producing C:G/G:C to T:A/A:T transition mutations if U is left unrepaired. Error-prone processing by UNG2 or mismatch repair diversifies mutation, predominantly at C:G or A:T base pairs, respectively. Here, we show that transversions at C:G base pairs occur by two distinct processing pathways that are dictated by sequence context. Within and near AGCT mutation hotspots, transversion mutation at C:G was driven by UNG2 without requirement for mismatch repair...
December 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/28038733/genetic-mutation-risk-calculation-in-lynch-syndrome-inheritance-evaluating-the-utility-of-the-premm1-2-6-model-in-lyon-the-first-french-study
#19
REVIEW
Souria Aissaoui, Charline Cartellier, Thomas Seytier, Sophie Giraud, Alain Calender
Lynch syndrome is due to germline mutations in mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. It is characterized by an increased risk of various cancers including colorectal and endometrial cancers. Early diagnosis of these patients allows for appropriate surveillance and improves survival rates. Differentiating between patients who should undergo genetic testing and those for whom it is not necessary is difficult despite various established criteria (Amsterdam and Bethesda). Often, health professionals meet in multidisciplinary committees (MDC) to discuss patient cases regarding Lynch syndrome...
December 27, 2016: Bulletin du Cancer
https://www.readbyqxmd.com/read/28034727/diagnosing-colorectal-medullary-carcinoma-interobserver-variability-and-clinicopathological-implications
#20
Lik Hang Lee, Rhonda K Yantiss, Eran Sadot, Bing Ren, Marcela Santos Calvacanti, Jaclyn F Hechtman, Sinisa Ivelja, Be Huynh, Yue Xue, Tatiana Shitilbans, Hamza Guend, Zsofia K Stadler, Martin R Weiser, Efsevia Vakiani, Mithat Gonen, David S Klimstra, Jinru Shia
Colorectal medullary carcinoma, recognized by the World-Health-Organization as a distinct histologic subtype, is commonly regarded as a specific entity with an improved prognosis and unique molecular pathogenesis. A fundamental but as-yet unaddressed question, however, is whether it can be diagnosed reproducibly. In this study, by analyzing 80 colorectal adenocarcinomas whose dominant growth pattern was solid (thus encompassing medullary carcinoma and its mimics), we provided a detailed description of the morphological spectrum from "classic medullary histology" to non-medullary poorly-differentiated histologies and demonstrated significant overlapping between categories...
December 26, 2016: Human Pathology
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