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https://www.readbyqxmd.com/read/28226235/plant-mitochondrial-genomes-dynamics-and-mechanisms-of-mutation
#1
José M Gualberto, Kathleen J Newton
The large mitochondrial genomes of angiosperms are unusually dynamic because of recombination activities involving repeated sequences. These activities generate subgenomic forms and extensive genomic variation even within the same species. Such changes in genome structure are responsible for the rapid evolution of plant mitochondrial DNA and for the variants associated with cytoplasmic male sterility and abnormal growth phenotypes. Nuclear genes modulate these processes, and over the past decade, several of these genes have been identified...
February 9, 2017: Annual Review of Plant Biology
https://www.readbyqxmd.com/read/28218421/frameshift-mutational-target-gene-analysis-identifies-similarities-and-differences-in-constitutional-mismatch-repair-deficiency-and-lynch-syndrome
#2
Claudia Maletzki, Maja Huehns, Ingrid Bauer, Tim Ripperger, Maureen M Mork, Eduardo Vilar, Sabine Klöcking, Heike Zettl, Friedrich Prall, Michael Linnebacher
Mismatch-repair deficient (MMR-D) malignancies include Lynch Syndrome (LS), which is secondary to germline mutations in one of the MMR genes, and the rare childhood-form of constitutional mismatch repair-deficiency (CMMR-D); caused by bi-allelic MMR gene mutations. A hallmark of LS-associated cancers is microsatellite instability (MSI), characterized by coding frameshift mutations (cFSM) in target genes. By contrast, tumors arising in CMMR-D patients are thought to display a somatic mutation pattern differing from LS...
February 20, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28214977/braf-mutated-colorectal-cancer-what-is-the-optimal-strategy-for-treatment
#3
REVIEW
Romain Cohen, Pascale Cervera, Magali Svrcek, Anna Pellat, Chantal Dreyer, Aimery de Gramont, Thierry André
The BRAF activating mutation, harbored by approximately 10% of colorectal cancers (CRC), confers dramatic prognosis to advanced diseases. In early-stage setting, the identification of the BRAF mutation does not impact the therapeutic decision. Yet, the BRAF mutation could be considered as a stratification factor in adjuvant trials, because of its prognostic impact after relapse. Moreover, both BRAF mutation and mismatch repair (MMR) statuses should be determined in all CRC to help identify sporadic tumors versus Lynch syndrome-related tumors...
February 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28214209/expression-and-promoter-dna-methylation-of-mlh1-in-colorectal-cancer-and-lung-cancer
#4
Yunxia Ma, Yuan Chen, Iver Petersen
AIMS: Aberrant DNA methylation is a common molecular feature in human cancer. The aims of this study were to analyze the methylation status of MLH1, one of the DNA mismatch repair (MMR) genes, in human colorectal and lung cancer and to evaluate its clinical relevance. METHODS: The expression of MLH1 was analyzed in 8 colorectal cancer (CRC) and 8 lung cancer cell lines by real-time RT-PCR and western blotting. The MLH1 protein expression was evaluated by immunohistochemistry on tissue microarrays including 121 primary CRC and 90 lung cancer patient samples...
January 22, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28210855/lymph-node-retrieval-in-colorectal-cancer-determining-factors-and-prognostic-significance
#5
Johannes Betge, Lars Harbaum, Marion J Pollheimer, Richard A Lindtner, Peter Kornprat, Matthias P Ebert, Cord Langner
PURPOSE: The study aimed to analyze clinicopathological factors that determine the extent of lymph node retrieval and to evaluate its prognostic impact in patients with colorectal cancer (CRC). METHODS: The number of retrieved lymph nodes was analyzed in 381 CRC specimens. Lymph node count was related to different clinicopathological variables by binary logistic regression. Progression-free survival (PFS) and cancer-specific survival (CSS) were determined using the Kaplan-Meier method and Cox regression models...
February 16, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28210747/extent-of-field-change-in-colorectal-cancers-with-braf-mutation
#6
Aaron Poh, Heidi Sian Ying Chang, Kok Yang Tan, Xin Xiu Sam, Avery Khoo, Shoa Nian Choo, Min En Nga, Wei Keat Wan
INTRODUCTION: Sporadic colorectal cancers with BRAF mutations constitute two distinct subgroups of colorectal cancers. Recent studies have linked the presence of the BRAF mutation to a familial inheritance pattern. This was a proof-of-concept study that aimed to examine: (a) the extent of field change in sporadic colorectal cancers with BRAF mutation; and (b) the extent of resection margins required and the pattern of DNA mismatch repair protein loss in these tumours. METHODS: Eight microsatellite instability-high (MSI-H) tumours with positive BRAF mutation from an existing histopathological database were selected for BRAF mutation and mismatch repair protein analysis...
February 17, 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28206961/lynch-syndrome-related-small-intestinal-adenocarcinomas
#7
Sun-Young Jun, Eui-Jin Lee, Mi-Ju Kim, Sung Min Chun, Young Kyung Bae, Soon Uk Hong, Jene Choi, Joon Mee Kim, Kee-Taek Jang, Jung Yeon Kim, Gwang Il Kim, Soo Jin Jung, Ghilsuk Yoon, Seung-Mo Hong
Lynch syndrome is an autosomal-dominant disorder caused by defective DNA mismatch repair (MMR) genes and is associated with increased risk of malignancies in multiple organs. Small-intestinal adenocarcinomas are common initial manifestations of Lynch syndrome. To define the incidence and characteristics of Lynch syndrome-related small-intestinal adenocarcinomas, meticulous familial and clinical histories were obtained from 195 patients with small-intestinal adenocarcinoma, and MMR protein immunohistochemistry, microsatellite instability, MLH1 methylation, and germline mutational analyses were performed...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28198347/natural-escherichia-coli-isolates-rapidly-acquire-genetic-changes-upon-laboratory-domestication
#8
Bin Liu, Gustavo Eydallin, Ram P Maharjan, Lu Feng, Lei Wang, Thomas Ferenci
The adaptation of environmental bacteria to laboratory conditions was analysed through the exploration of genomic changes in four strains of Escherichia coli freshly isolated from their natural habitats and belonging to different taxonomic clusters. Up to 25 mutations were present in all cultures of natural isolates within 10 days of transfer in rich media or with a single growth cycle involving an extended stationary phase. Among numerous individual mutations, two genes were affected in parallel in distinct backgrounds...
January 2017: Microbiology
https://www.readbyqxmd.com/read/28195393/use-of-multigene-panel-identifies-pathogenic-variants-in-several-crc-predisposing-genes-in-patients-previously-tested-for-lynch-syndrome
#9
Maren F Hansen, Jostein Johansen, Anna E Sylvander, Inga Bjørnevoll, Bente A Talseth-Palmer, Liss Anne S Lavik, Alexandre Xavier, Lars F Engebretsen, Rodney J Scott, Finn Drabløs, Wenche Sjursen
Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be associated with this disease can be identified. The aim of this study was to find the genetic cause for the increased colorectal cancer risk in these unsolved cases. Therefore, we designed a gene panel targeting 112 previously known or candidate colorectal cancer susceptibility genes to screen 274 patient samples for mutations...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28195261/immunohistochemical-evaluation-of-mismatch-repair-proteins-in-colorectal-carcinoma-the-aifeg-gipad-proposal
#10
A Remo, M Fassan, G Lanza
Microsatellite instability (MSI) is a hypermutable phenotype that usually arises from either a germline mutation in components of the mismatch repair (MMR) machinery (i.e. hMLH1, MSH2, MSH6 and PMS2) in patients with Lynch syndrome (LS) or somatic hypermethylation of the hMLH1 promoter in sporadic carcinomas. In all colorectal cancers (CRC) is possible to identify the MMR deficiency through protein expression by immunoistochemistry (IHC). Recently, the predictive role of MMR deficiency in reduced chemotherapy benefit and the introduction of universal screening for Lynch syndrome suggest to include MMR testing into routine clinical practice...
September 2016: Pathologica
https://www.readbyqxmd.com/read/28193730/mismatch-repair-incompatibilities-in-diverse-yeast-populations
#11
Duyen T Bui, Anne Friedrich, Najla Al-Sweel, Gianni Liti, Joseph Schacherer, Charles F Aquadro, Eric Alani
An elevated mutation rate can provide cells with a source of mutations to adapt to changing environments. We identified a negative-epistatic interaction involving naturally occurring variants in the MLH1 and PMS1 mismatch repair (MMR) genes of Saccharomyces cerevisiae We hypothesized that this MMR incompatibility, created through mating between divergent S. cerevisiae, yields mutator progeny that can rapidly but transiently adapt to an environmental stress. Here we analyzed the MLH1 and PMS1 genes across 1,010 S...
February 13, 2017: Genetics
https://www.readbyqxmd.com/read/28192899/comparison-of-the-mismatch-repair-system-between-primary-and-metastatic-colorectal-cancers-using-immunohistochemistry
#12
Jiyoon Jung, Youngjin Kang, Yoo Jin Lee, Eojin Kim, Bokyung Ahn, Eunjung Lee, Joo Young Kim, Jeong Hyeon Lee, Youngseok Lee, Chul Hwan Kim, Yang-Seok Chae
Background: Colorectal cancer (CRC) is one of the most common malignancies worldwide. Approximately 10%-15% of the CRC cases have defective DNA mismatch repair (MMR) genes. Although the high level of microsatellite instability status is a predictor of favorable outcome in primary CRC, little is known about its frequency and importance in secondary CRC. Immunohistochemical staining (IHC) for MMR proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has emerged as a useful technique to complement polymerase chain reaction (PCR) analyses...
February 14, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28188185/response-to-pd-1-blockade-in-microsatellite-stable-metastatic-colorectal-cancer-harboring-a-pole-mutation
#13
Jun Gong, Chongkai Wang, Peter P Lee, Peiguo Chu, Marwan Fakih
Recent clinical evidence has demonstrated that microsatellite instability (MSI) or defective mismatch repair (MMR) and high tumor mutational load can predict response to the programmed cell death 1 (PD-1) receptor inhibitor pembrolizumab in metastatic colorectal cancer (mCRC). Mutations in polymerase ε (POLE), a DNA polymerase involved in DNA replication and repair, contribute to an ultramutated but microsatellite stable (MSS) phenotype in colorectal tumors that is uniquely distinct from MSI tumors. This report presents the first case in the literature describing a clinical response to pembrolizumab in an 81-year-old man with treatment-refractory mCRC characterized by an MSS phenotype and POLE mutation identified on genomic profiling by next-generation sequencing...
February 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28188180/a-population-genomics-approach-to-assessing-the-genetic-basis-of-within-host-microevolution-underlying-recurrent-cryptococcal-meningitis-infection
#14
Johanna Rhodes, Mathew A Beale, Mathieu Vanhove, Joseph N Jarvis, Shichina Kannambath, John A Simpson, Anthea Ryan, Graeme Meintjes, Thomas S Harrison, Matthew C Fisher, Tihana Bicanic
Recurrence of meningitis due to Cryptococcus neoformans after treatment causes substantial mortality in HIV/AIDS patients across sub-Saharan Africa. In order to determine whether recurrence occurred due to relapse of the original infecting isolate or reinfection with a different isolate weeks or months after initial treatment, we used whole-genome sequencing to assess the genetic basis of infection in 17 HIV-infected individuals with recurrent cryptococcal meningitis. Comparisons revealed a clonal relationship for 15 pairs of isolates recovered before and after recurrence showing relapse of the original infection...
February 10, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28180998/the-prognostic-value-and-pathobiological-significance-of-glasgow-microenvironment-score-in-gastric-cancer
#15
Zhi-Hua Zhou, Cheng-Dong Ji, Jiang Zhu, Hua-Liang Xiao, Hai-Bin Zhao, You-Hong Cui, Xiu-Wu Bian
PURPOSE: To evaluate the prognostic value and pathobiological significance of Glasgow microenvironment score (GMS), a parameter based on tumor stroma percentage and inflammatory cell infiltration, in gastric cancer. METHODS: A total of 225 cases of gastric cancer were histologically reviewed, and GMS was evaluated for each case. The association between GMS and patients' survival was investigated. Then the relationship between GMS and mismatch repair (MMR) status, Epstein-Barr virus (EBV) infection were determined using immunohistochemistry (IHC) and in situ hybridization, and the expression of PD1/PD-L1 was examined...
February 8, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28177429/immunohistochemistry-to-determine-mismatch-repair-deficiency-in-endometrial-cancer-the-appropriate-standard
#16
M A Powell
No abstract text is available yet for this article.
January 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28176205/correlation-between-germline-mutations-in-mmr-genes-and-microsatellite-instability-in-ovarian-cancer-specimens
#17
Mohammad R Akbari, Shiyu Zhang, Deborah Cragun, Ji-Hyun Lee, Domenico Coppola, John McLaughlin, Harvey A Risch, Barry Rosen, Patricia Shaw, Thomas A Sellers, Joellen Schildkraut, Steven A Narod, Tuya Pal
A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28174306/a-mobile-element-in-muts-drives-hypermutation-in-a-marine-vibrio
#18
Nathaniel D Chu, Sean A Clarke, Sonia Timberlake, Martin F Polz, Alan D Grossman, Eric J Alm
: Bacteria face a trade-off between genetic fidelity, which reduces deleterious mistakes in the genome, and genetic innovation, which allows organisms to adapt. Evidence suggests that many bacteria balance this trade-off by modulating their mutation rates, but few mechanisms have been described for such modulation. Following experimental evolution and whole-genome resequencing of the marine bacterium Vibrio splendidus 12B01, we discovered one such mechanism, which allows this bacterium to switch to an elevated mutation rate...
February 7, 2017: MBio
https://www.readbyqxmd.com/read/28165350/sebaceous-carcinoma-treated-with-mohs-micrographic-surgery
#19
Kimberly L Brady, Eva A Hurst
BACKGROUND: Sebaceous carcinoma is a rare and potentially aggressive adnexal neoplasm with historic data indicating high rates of recurrence, metastasis, and cancer-specific mortality. OBJECTIVE: To evaluate the incidence of local recurrence, metastasis, disease-specific mortality, and all-cause mortality and to identify work-up approaches. PATIENTS AND METHODS/MATERIALS: Retrospective review of patients with sebaceous carcinoma treated with Mohs micrographic surgery between 2001 and 2013 at one institution...
February 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28164104/left-ventricle-mitral-valve-ring-size-mismatch-understanding-the-limitations-of-mitral-valve-repair-for-ischemic-mitral-regurgitation
#20
COMMENT
Christos G Mihos, Evin Yucel, Orlando Santana
No abstract text is available yet for this article.
January 2017: Annals of Translational Medicine
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