keyword
MENU ▼
Read by QxMD icon Read
search

Microsatellite instability

keyword
https://www.readbyqxmd.com/read/28739746/association-of-intron-microsatellite-instability-and-exon-mutational-profile-of-tp53-in-human-gastric-cancers
#1
Xueyun Huo, Xiaoqin Xiao, Shuangyue Zhang, Deshan Zhou, Zhenwen Chen
BACKGROUND/AIM: Microsatellite instability (MSI) is a hallmark of genomic instability. In gastric cancer (GC), MSI phenotype is an important molecular subgroup that is often closely correlated with elevated mutation rates on the whole genome level. However, on a single gene level, it is still unknown whether the MSI status of a gene is correlated with the mutational profile of the gene itself. MATERIALS AND METHODS: We analyzed intron MSI status and exon mutational profile of TP53 through short tandem repeat (STR) scanning and direct sequencing respectively in gastric cancers and their matched normal tissues...
August 2017: Anticancer Research
https://www.readbyqxmd.com/read/28734759/nivolumab-in-patients-with-metastatic-dna-mismatch-repair-deficient-or-microsatellite-instability-high-colorectal-cancer-checkmate-142-an-open-label-multicentre-phase-2-study
#2
Michael J Overman, Ray McDermott, Joseph L Leach, Sara Lonardi, Heinz-Josef Lenz, Michael A Morse, Jayesh Desai, Andrew Hill, Michael Axelson, Rebecca A Moss, Monica V Goldberg, Z Alexander Cao, Jean-Marie Ledeine, Gregory A Maglinte, Scott Kopetz, Thierry André
BACKGROUND: Metastatic DNA mismatch repair-deficient (dMMR)/microsatellite instability-high (MSI-H) colorectal cancer has a poor prognosis after treatment with conventional chemotherapy and exhibits high levels of tumour neoantigens, tumour-infiltrating lymphocytes, and checkpoint regulators. All of these features are associated with the response to PD-1 blockade in other tumour types. Therefore, we aimed to study nivolumab, a PD-1 immune checkpoint inhibitor, in patients with dMMR/MSI-H metastatic colorectal cancer...
July 19, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28734015/different-mir-21-3p-isoforms-and-their-different-features-in-colorectal-cancer
#3
Weijuan Jiao, Xueqin Leng, Qun Zhou, Yayun Wu, Lina Sun, Yan Tan, Hengli Ni, Xiaoqiang Dong, Tong Shen, Yao Liu, Jianming Li
MiR-21, the only miRNA found to be overexpressed in any type of solid tumor, its guide stand, miR-21-5p, has been studied a lot in colorectal cancer (CRC), however, few researchers focused on its passenger strand, miR-21-3p. In this study, based on The Cancer Genome Atlas (TCGA) data, we found that there were more variety and quantity of miR-21-3p isoforms in microsatellite instability (MSI)-type CRC. We further examined the role of miR-21-3p by in vitro and in vivo studies. MiR-21-3p may be an oncogene in CRC by promoting cellular mobility through epithelial-mesenchymal transition (EMT)...
July 22, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28730763/dna-mismatch-repair-deficiency-in-lung-and-oral-cavity-carcinomas-the-role-of-histogenetic-origin
#4
Konstantina N Spetsotaki, Evangelos Tsiambas, Athanasios Stamatelopoulos, Panagiotis P Fotiades, Ioannis Kastanioudakis, Pericles Tomos, Vasileios Ragos
DNA mismatch repair system (DNA MMR) is a crucial genetic mechanism for DNA homeostasis in prokaryotic and eukaryotic cells. During DNA replication and also recombination, point intra-nucleotide errors including base deletion, insertion, and mis-incorporation happen. These raised abnormalities in the newly synthesized DNA strand could affect negatively the stability of the molecule and the function of the corresponding genes. DNA MMR proteins prevent these errors by recognizing and repairing them, securing directly the normal anatomy of the DNA double strand and indirectly the expression of the genes...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28728506/microsatellite-instability-and-promoter-hypermethylation-of-dna-repair-genes-in-hematologic-malignancies-a-forthcoming-direction-toward-diagnostics
#5
Priyanjali Bhattacharya, Trupti N Patel
OBJECTIVE: The objective of our review is to highlight the significance of microsatellite hypervariation in diagnostics of hematologic malignancies. METHODS: For the past few decades, extensive experiments in cancer research have explored all the possible pathways and a number of deleterious mutations that either make the tumor suppressor genes (TSGs) dysfunctional or cause the proto-oncogenes to behave abnormally by changing the cellular phenotype hence rendering disease...
July 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28712776/clonal-evolution-in-paired-endometrial-intraepithelial-neoplasia-atypical-hyperplasia-and-endometrioid-adenocarcinoma
#6
Mariano Russo, James Broach, Kathryn Sheldon, Kenneth R Houser, Dajiang J Liu, Joshua Kesterson, Rebecca Phaeton, Carrie Hossler, Nadine Hempel, Maria Baker, Jordan M Newell, Richard Zaino, Joshua I Warrick
Endometrial intraepithelial neoplasia (EIN) and atypical endometrial hyperplasia (AH) are histomorphologically-defined precursors to endometrioid adenocarcinoma, which are unified as EIN/AH by the World Health Organization. EIN/AH harbors a constellation of molecular alterations similar those found in endometrioid adenocarcinoma. However, the process of clonal evolution from EIN/AH to carcinoma is poorly characterized. To investigate, we performed next generation sequencing, copy number alteration (CNA) analysis, and immunohistochemistry for mismatch repair protein expression on EIN/AH and endometrioid adenocarcinoma samples from 6 hysterectomy cases with spatially distinct EIN/AH and carcinoma...
July 13, 2017: Human Pathology
https://www.readbyqxmd.com/read/28712775/simple-sequence-repeats-showing-length-preference-have-regulatory-functions-in-humans
#7
Jaya Krishnan, Fathima Athar, Tirupaati Swaroopa Rani, Rakesh Kumar Mishra
Simple sequence repeats (SSRs), simple tandem repeats (STRs) or microsatellites are short tandem repeats of 1-6 nucleotide motifs. They are twice as abundant as the protein coding DNA in the human genome and yet little is known about their functional relevance. Analysis of genomes across various taxa show that despite the instability associated with longer stretches of repeats, few SSRs with specific longer repeat lengths are enriched in the genomes indicating a positive selection. This conserved feature of length dependent enrichment hints at not only sequence but also length dependent functionality for SSRs...
July 13, 2017: Gene
https://www.readbyqxmd.com/read/28709704/epigenetic-silencing-of-mlh1-in-endometrial-cancers-is-associated-with-larger-tumor-volume-increased-rate-of-lymph-node-positivity-and-reduced-recurrence-free-survival
#8
Casey M Cosgrove, David E Cohn, Heather Hampel, Wendy L Frankel, Dan Jones, Joseph P McElroy, Adrian A Suarez, Weiqiang Zhao, Wei Chen, Ritu Salani, Larry J Copeland, David M O'Malley, Jeffrey M Fowler, Ahmet Yilmaz, Alexis S Chassen, Rachel Pearlman, Paul J Goodfellow, Floor J Backes
OBJECTIVES: To determine the relationship between mismatch repair (MMR) classification and clinicopathologic features including tumor volume, and explore outcomes by MMR class in a contemporary cohort. METHODS: Single institution cohort evaluating MMR classification for endometrial cancers (EC). MMR immunohistochemistry (IHC)±microsatellite instability (MSI) testing and reflex MLH1 methylation testing was performed. Tumors with MMR abnormalities by IHC or MSI and MLH1 methylation were classified as epigenetic MMR deficiency while those without MLH1 methylation were classified as probable MMR mutations...
July 11, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28705114/genetic-changes-of-mlh1-and-msh2-genes-could-explain-constant-findings-on-microsatellite-instability-in-intracranial-meningioma
#9
Nives Pećina-Šlaus, Anja Kafka, Anja Bukovac, Tomislav Vladušić, Davor Tomas, Reno Hrašćan
Postreplicative mismatch repair safeguards the stability of our genome. The defects in its functioning will give rise to microsatellite instability. In this study, 50 meningiomas were investigated for microsatellite instability. Two major mismatch repair genes, MLH1 and MSH2, were analyzed using microsatellite markers D1S1611 and BAT26 amplified by polymerase chain reaction and visualized by gel electrophoresis on high-resolution gels. Furthermore, genes DVL3 (D3S1262), AXIN1 (D16S3399), and CDH1 (D16S752) were also investigated for microsatellite instability...
July 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28699072/expending-role-of-microsatellite-instability-in-diagnosis-and-treatment-of-colorectal-cancers
#10
REVIEW
Liisa Chang, Minna Chang, Hanna M Chang, Fuju Chang
BACKGROUND: Colorectal carcinomas with high-frequency microsatellite instability (MSI-H) account for 15% of all colorectal cancers, including 12% of sporadic cases and 3% of cancers associated with Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome, HNPCC). Lynch syndrome is an autosomal dominant hereditary cancer syndrome, caused by germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6 and PMS2. METHODS: Published articles from peer-reviewed journals were obtained from PubMed, Google Scholar and Clinicaltrials...
July 11, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28696559/genetic-testing-for-hereditary-nonpolyposis-colorectal-cancer-hnpcc
#11
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. Lynch syndrome accounts for up to 3% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA...
July 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28694132/inflammatory-bowel-disease-and-small-bowel-cancer-risk-clinical-characteristics-and-histopathology-a-population-based-study
#12
Rasmus Dahlin Bojesen, Lene Buhl Riis, Estrid Høgdall, Ole Haagen Nielsen, Tine Jess
BACKGROUND & AIMS: Inflammatory bowel disease (IBD) may increase risk of small bowel cancer (SBC). However, little is known of the characteristics and features of IBD-SBC, due to a low number of cases worldwide. We performed a population-based study of IBD and SBC to calculate risk and increase our understanding of clinical characteristics and histopathological and molecular features. METHODS: The study population consisted of all individuals 16 years or older living in Denmark during 1978-2010...
July 7, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28693799/the-current-value-of-determining-the-mismatch-repair-status-of-colorectal-cancer-a-rationale-for-routine-testing
#13
REVIEW
E Ryan, K Sheahan, B Creavin, H M Mohan, D C Winter
Colorectal Cancer (CRC) is the third most prevalent cancer in men and women. Up to 15% of CRCs display microsatellite instability (MSI). MSI is reflective of a deficient mismatch repair (MMR) system and is most commonly caused by hypermethylation of the MLH1 promoter. However, it may also be due to autosomal dominant constitutional mutations in DNA MMR, termed Lynch Syndrome. MSI may be diagnosed via polymerase chain reaction (PCR) or alternatively, immunohistochemistry (IHC) can identify MMR deficiency (dMMR)...
August 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28692125/steroid-metabolism-gene-polymorphisms-and-their-implications-on-breast-and-ovarian-cancer-prognosis
#14
E V W Dos Santos, L N R Alves, I D Louro
A role for estrogen in the etiology of breast and ovarian cancers has been suggested; therefore, genetic polymorphisms in steroid metabolism genes could be involved in the carcinogenesis of these tumors. We have aimed to investigate the role of GSTP1 and CYP17 polymorphisms and their correlation with MSI (microsatellite instability) and LOH (loss of heterozygosity) in AR, ERβ and CYP19 genes in women from Espírito Santo State, Brazil. The study population consisted of 107 female breast and 24 ovarian tumors...
July 6, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28690196/linking-arsenite-and-cadmium-generated-oxidative-stress-to-microsatellite-instability-in-vitro-and-in-vivo
#15
Chang-Lin Wu, Li-Yan Huang, Christina L Chang
Mismatch repair (MMR) corrects replicative errors and minimizes DNA damage that occurs frequently in microsatellites. MMR deficiency is manifested as microsatellite instability (MSI), which contributes to hypermutability and cancer pathogenesis. Genomic instability, including MSI and chromosomal instability, appears to be responsible for the carcinogenesis of arsenic and cadmium, common contaminants in our environment. However, few studies have addressed arsenic- or cadmium-induced MSI, especially its potential link with arsenic- or cadmium-generated oxidative stress, due to the lack of quantifiable MSI assays and cost-effective animal models...
July 6, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28678842/activation-of-dun1-in-response-to-nuclear-dna-instability-accounts-for-the-increase-in-mitochondrial-point-mutations-in-rad27-fen1-deficient-s-cerevisiae
#16
Aneta Kaniak-Golik, Renata Kuberska, Piotr Dzierzbicki, Ewa Sledziewska-Gojska
Rad27/FEN1 nuclease that plays important roles in the maintenance of DNA stability in the nucleus has recently been shown to reside in mitochondria. Accordingly, it has been established that Rad27 deficiency causes increased mutagenesis, but decreased microsatellite instability and homologous recombination in mitochondria. Our current analysis of mutations leading to erythromycin resistance indicates that only some of them arise in mitochondrial DNA and that the GC→AT transition is a hallmark of the mitochondrial mutagenesis in rad27 null background...
2017: PloS One
https://www.readbyqxmd.com/read/28678761/pik3ca-mutations-are-associated-with-increased-tumor-aggressiveness-and-akt-activation-in-gastric-cancer
#17
Ji-Won Kim, Hye Seung Lee, Kyung Han Nam, Soyeon Ahn, Jin Won Kim, Sang-Hoon Ahn, Do Joong Park, Hyung-Ho Kim, Keun-Wook Lee
PIK3CA mutations are frequent in gastric cancer. However, their pathological and clinical implications are still unclear. We analyzed the clinicopathological characteristics according to the PIK3CA mutation status of patients with stage IB-IV disease who underwent gastrectomy between May 2003 and Dec. 2005 (cohort 1; n = 302) and of those with stage IV disease who received gastrectomy between Jul. 2006 and Dec. 2012 (cohort 2; n = 120). PIK3CA mutations were detected in 40 patients (13.2%) in cohort 1. In these patients, PIK3CA-mutant tumors were more frequently located in the upper third of the stomach (p = 0...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28676214/dna-mismatch-repair-deficiency-in-surgically-resected-lung-adenocarcinoma-microsatellite-instability-analysis-using-the-promega-panel
#18
Kazuya Takamochi, Fumiyuki Takahashi, Yoshiyuki Suehara, Eiichi Sato, Shinji Kohsaka, Takuo Hayashi, Shigehisa Kitano, Toshihide Uneno, Shinya Kojima, Kengo Takeuchi, Hiroyuki Mano, Kenji Suzuki
OBJECTIVES: DNA mismatch repair (MMR) deficiency has recently received increasing attention as a significant biomarker to predict the treatment effect of immune checkpoint inhibitors for various malignant neoplasms. To evaluate MMR status, we analyzed the microsatellite instability (MSI) of lung adenocarcinomas. MATERIALS AND METHODS: Frozen tissues of lung adenocarcinoma and corresponding normal lung were obtained from 341 patients, including 141 with tumors harboring driver gene alterations (50 EGFR gene mutations, 50 KRAS gene mutations, 21 ALK fusions, 10 ROS1 fusions, and 10 RET fusions) and 200 with pan-negative tumors (100 never- or light-smokers and 100 heavy-smokers), who were surgically treated between 2007 and 2015...
August 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28668860/gastrocutaneous-fistula-in-a-patient-with-locally-recurrent-msi-high-colorectal-cancer-local-complications-arising-from-therapeutic-response-to-immune-checkpoint-blockade
#19
Claire Greene, Eric K Nakakura, Andrew H Ko
Colorectal cancers with high microsatellite instability (MSI-H) have distinct clinical features in terms of their prognosis, recurrence patterns, and sensitivity to immunotherapeutic agents. We present the case of a woman with a left-sided MSI-H colon cancer who had repeated recurrences concentrated exclusively in the left upper quadrant of the abdomen, including gastric involvement. Despite multiple surgical resections, radiation, and several lines of chemotherapy, her disease eventually eroded through the chest wall...
July 2017: Anticancer Research
https://www.readbyqxmd.com/read/28668077/variation-of-mutant-allele-frequency-in-nras-q61-mutated-melanomas
#20
Zofia Hélias-Rodzewicz, Elisa Funck-Brentano, Nathalie Terrones, Alain Beauchet, Ute Zimmermann, Cristi Marin, Philippe Saiag, Jean-François Emile
BACKGROUND: Somatic mutations of BRAF or NRAS activating the MAP kinase cell signaling pathway are present in 70% of cutaneous melanomas. The mutant allele frequency of BRAF V600E (M%BRAF) was recently shown to be highly heterogeneous in melanomas. The present study focuses on the NRAS Q61 mutant allele frequency (M%NRAS). METHODS: Retrospective quantitative analyze of 104 NRAS mutated melanomas was performed using pyrosequencing. Mechanisms of M%NRAS imbalance were studied by fluorescence in situ hybridization (FISH) and microsatellite analysis...
July 1, 2017: BMC Dermatology
keyword
keyword
24136
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"