keyword
MENU ▼
Read by QxMD icon Read
search

Mmr

keyword
https://www.readbyqxmd.com/read/28542125/notes-from-the-field-measles-outbreak-at-a-united-states-immigration-and-customs-enforcement-facility-arizona-may-june-2016
#1
Heather Venkat, Ahmed M Kassem, Chia-Ping Su, Clancey Hill, Evan Timme, Graham Briggs, Kenneth Komatsu, Susan Robinson, Rebecca Sunenshine, Manisha Patel, Diana Elson, Paul Gastañaduy, Shane Brady
On May 25, 2016, a detainee at a U.S. Immigration and Customs Enforcement (ICE) detention center in Arizona who had been hospitalized with fever and a generalized maculopapular rash was confirmed to have measles by real-time polymerase chain reaction (rPCR). A second case of measles in a staff member was confirmed by rPCR the next day. The privately operated, city-contracted facility housed 1,425 detainees, and employed 510 staff members, including 95 federal ICE staff and 415 contract staff of four distinct employers...
May 26, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28540759/baseline-bcr-abl1-transcript-type-of-e13a2-and-large-spleen-size-are-predictors-of-poor-long-term-outcomes-in-chronic-phase-chronic-myeloid-leukemia-patients-who-failed-to-achieve-an-early-molecular-response-after-3-months-of-imatinib-therapy
#2
Sung-Eun Lee, Soo-Young Choi, Soo-Hyun Kim, Hye-Young Song, Hae-Lyun Yoo, Mi-Young Lee, Hee-Jeong Hwang, Ki-Hoon Kang, Kyung-Mi Kee, Eun-Jung Jang, Dong-Wook Kim
We conducted this study to identify the factors for predicting poor outcomes in chronic myeloid leukemia patients who failed to achieve a 3-month early molecular response (EMR). Of the 413 newly diagnosed, chronic phase, chronic myeloid leukemia patients receiving imatinib (IM), 120 (29.1%) failed to achieve a 3-month EMR. With a median follow-up of 67.0 months, 39 patients continued IM treatment with at least complete cytogenetic response (CCyR), and 81 patients permanently discontinued IM treatment. The cumulative incidence rates of CCyR and major molecular response (MMR) by 3 years were 90...
May 25, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28536927/involvement-of-the-dna-mismatch-repair-system-in-cisplatin-sensitivity-of-testicular-germ-cell-tumours
#3
Christiane Rudolph, Cecilie Melau, John E Nielsen, Kristina Vile Jensen, Dekang Liu, Javier Pena-Diaz, Ewa Rajpert-De Meyts, Lene Juel Rasmussen, Anne Jørgensen
BACKGROUND: Testicular germ cell tumours (TGCT) are highly sensitive to cisplatin-based chemotherapy, but patients with tumours containing differentiated teratoma components are less responsive to this treatment. The cisplatin sensitivity in TGCT has previously been linked to the embryonic phenotype in the majority of tumours, although the underlying mechanism largely remains to be elucidated. The aim of this study was to investigate the role of the DNA mismatch repair (MMR) system in the cisplatin sensitivity of TGCT...
May 23, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/28531315/the-interaction-between-cytosine-methylation-and-processes-of-dna-replication-and-repair-shape-the-mutational-landscape-of-cancer-genomes
#4
Rebecca C Poulos, Jake Olivier, Jason W H Wong
Methylated cytosines (5mCs) are frequently mutated in the genome. However, no studies have yet comprehensively analysed mutation-methylation associations across cancer types. Here we analyse 916 cancer genomes, together with tissue type-specific methylation and replication timing data. We describe a strong mutation-methylation association across colorectal cancer subtypes, most interestingly in samples with microsatellite instability (MSI) or Polymerase epsilon (POLE) exonuclease domain mutations. By analysing genomic regions with differential mismatch repair (MMR) efficiency, we suggest a possible role for MMR in the correction of 5mC deamination events, potentially accounting for the high rate of 5mC mutation accumulation in MSI tumours...
May 22, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28531214/suspected-lynch-syndrome-associated-msh6-variants-a-functional-assay-to-determine-their-pathogenicity
#5
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in suspected-LS patients. To conclusively diagnose LS and enroll patients in appropriate surveillance programs to reduce morbidity as well as mortality, the functional consequences of these variants of uncertain clinical significance (VUS) must be defined...
May 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28529751/comparison-of-lifestyle-hormonal-and-medical-factors-in-women-with-sporadic-and-lynch-syndrome-associated-endometrial-cancer-a-retrospective-case-case-study
#6
Mari H Aaltonen, Synnöve Staff, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Johanna U Mäenpää
Data available on lifestyle-associated hormonal and medical factors among endometrial cancer (EC)-affected women who carry the Lynch Syndrome (LS) mutation is limited. The aim of the present retrospective case study was to compare the reproductive and medical history, as well as lifestyle-associated factors, among patients with LS and sporadic EC. The study population consisted of 50 verified germline mismatch repair (MMR) gene mutation carriers diagnosed with EC, and 110 sporadic EC patients. Data were collected using postal questionnaires...
May 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#7
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28522752/mismatch-repair-proteins-initiate-epigenetic-alterations-during-inflammation-driven-tumorigenesis
#8
Ashley R Maiuri, Michael Peng, Shruthi Sriramkumar, Caitlin M Kamplain, Christina DeStefano Shields, Cynthia L Sears, Heather M O'Hagan
Aberrant silencing of genes by DNA methylation contributes to cancer, yet how this process is initiated remains unclear. Using a murine model of inflammation-induced tumorigenesis, we tested the hypothesis that inflammation promotes recruitment of epigenetic proteins to chromatin, initiating methylation and gene silencing in tumors. Compared to normal epithelium and non-inflammation-induced tumors, inflammation-induced tumors gained DNA methylation at CpG islands, some of which are associated with putative tumor suppressor genes...
May 18, 2017: Cancer Research
https://www.readbyqxmd.com/read/28522602/can-microsatellite-status-of-colorectal-cancer-be-reliably-assessed-after-neoadjuvant-therapy
#9
Jennifer B Goldstein, William Wu, Ester Borras, Gita Masand, Amanda Cuddy, Maureen E Mork, Sarah Bannon, Patrick M Lynch, Miguel Rodriguez-Bigas, Melissa Taggart, Ji Wu, Paul Scheet, Scott Kopetz, Y Nancy You, Eduardo Vilar
Purpose: Determination of microsatellite instability (MSI) by PCR is the gold standard; however, immunohistochemistry (IHC) of mismatch repair (MMR) proteins is frequently performed instead. The reliability of these methods on post-neoadjuvant-therapy specimens is unknown.  We examined the effect of neoadjuvant therapy on MSI results by PCR and IHC. Experimental design: A total of 239 colorectal cancers resected after neoadjuvant therapy were assessed for MSI with PCR and IHC. PCR and IHC results for matched paired pre- and post-treatment specimens were compared...
May 18, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28514183/multigene-panel-testing-provides-a-new-perspective-on-lynch-syndrome
#10
Carin R Espenschied, Holly LaDuca, Shuwei Li, Rachel McFarland, Chia-Ling Gau, Heather Hampel
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies...
May 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28512192/human-mismatch-repair-system-balances-mutation-rates-between-strands-by-removing-more-mismatches-from-the-lagging-strand
#11
Maria Andrianova, Georgii Bazykin, Sergey Nikolaev, Vladimir Seplyarskiy
Mismatch repair (MMR) is one of the main systems maintaining fidelity of replication. Differences in correction of errors produced during replication of the leading and the lagging DNA strands were reported in yeast and in human cancers, but the causes of these differences remain unclear. Here, we analyze data on human cancers with somatic mutations in two of the major DNA polymerases, delta and epsilon, that replicate the genome. We show that these cancers demonstrate a substantial asymmetry of the mutations between the leading and the lagging strands...
May 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28511204/-current-immunization-status-of-d%C3%A3-sseldorf-s-nursery-school-children-and-staff-members-a-cross-sectional-study
#12
Delbar Dilmaghani, Michael Schäfer, Renate Bredahl, Klaus Göbels
Background The local health authority (Gesundheitsamt) in Düsseldorf, Germany aimed to investigate the current immunization status of nursery school children and pedagogues in Düsseldorf, Germany. Furthermore, analysing the association between Düsseldorf's 5 social environment clusters and immunization status was of interest. Especially due to recent changes in the German Infection Protection Act closely monitoring adverse immunization trends becomes increasingly important. Methods Weighted cluster random sampling was used in order to draw a sample of 50 nursery schools from the 5 social environment clusters...
May 16, 2017: Das Gesundheitswesen
https://www.readbyqxmd.com/read/28505632/missed-opportunities-for-measles-mumps-rubella-vaccination-among-departing-u-s-adult-travelers-receiving-pretravel-health-consultations
#13
Emily P Hyle, Sowmya R Rao, Emily S Jentes, Amy Parker Fiebelkorn, Stefan H F Hagmann, Allison Taylor Walker, Rochelle P Walensky, Edward T Ryan, Regina C LaRocque
Background: Measles outbreaks continue to occur in the United States and are mostly due to infections in returning travelers. Objective: To describe how providers assessed the measles immunity status of departing U.S. adult travelers seeking pretravel consultation and to assess reasons given for nonvaccination among those considered eligible to receive the measles, mumps, rubella (MMR) vaccine. Design: Observational study in U.S. pretravel clinics...
May 16, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#14
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28498244/identifying-lynch-syndrome-in-women-presenting-with-endometrial-carcinoma-under-the-age-of-50-years
#15
Antonios Anagnostopoulos, Vicky H McKay, Iris Cooper, Fiona Campbell, Lynn Greenhalgh, John Kirwan
BACKGROUND: Lynch syndrome (LS) is an inherited disorder associated with genetic predisposition to endometrial, colorectal, ovarian, and other cancers. There is consensus for the necessity of assessment for LS in view of the established survival benefits for identified patients and affected family members. The debate regarding the best screening policy is far from being concluded. OBJECTIVES: The aim of this study was to evaluate a realistic protocol for identifying LS families by assessing young women with a diagnosis of endometrial cancer (EC)...
June 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28496433/interplay-between-mutations-and-efflux-in-drug-resistant-clinical-isolates-of-mycobacterium-tuberculosis
#16
Diana Machado, Tatiane S Coelho, João Perdigão, Catarina Pereira, Isabel Couto, Isabel Portugal, Raquel De Abreu Maschmann, Daniela F Ramos, Andrea von Groll, Maria L R Rossetti, Pedro A Silva, Miguel Viveiros
Numerous studies show efflux as a universal bacterial mechanism contributing to antibiotic resistance and also that the activity of the antibiotics subject to efflux can be enhanced by the combined use of efflux inhibitors. Nevertheless, the contribution of efflux to the overall drug resistance levels of clinical isolates of Mycobacterium tuberculosis is poorly understood and still is ignored by many. Here, we evaluated the contribution of drug efflux plus target-gene mutations to the drug resistance levels in clinical isolates of M...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28494185/functional-analysis-of-rare-variants-in-mismatch-repair-proteins-augments-results-from-computation-based-predictive-methods
#17
Sanjeevani Arora, Peter J Huwe, Rahmat Sikder, Manali Shah, Amanda J Browne, Randy Lesh, Emmanuelle Nicolas, Sanat Deshpande, Michael J Hall, Roland L Dunbrack, Erica A Golemis
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6,and PMS2. A major challenge for clinical diagnosis of LS is the frequent identification of variants of uncertain significance (VUS) in these genes, as it is often difficult to determine variant pathogenicity, particularly for missense variants. Generic programs such as SIFT and PolyPhen-2, and MMR gene-specific programs such as PON-MMR and MAPP-MMR, are often used to predict deleterious or neutral effects of VUS in MMR genes...
May 11, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28493319/an-elitist-multiobjective-tabu-search-for-optimal-design-of-groundwater-remediation-systems
#18
Yun Yang, Jianfeng Wu, Jinguo Wang, Zhifang Zhou
This study presents a new multiobjective evolutionary algorithm (MOEA), the elitist multiobjective tabu search (EMOTS), and incorporates it with MODFLOW/MT3DMS to develop a groundwater simulation-optimization (SO) framework based on modular design for optimal design of groundwater remediation systems using pump-and-treat (PAT) technique. The most notable improvement of EMOTS over the original multiple objective tabu search (MOTS) lies in the elitist strategy, selection strategy, and neighborhood move rule. The elitist strategy is to maintain all nondominated solutions within later search process for better converging to the true Pareto front...
May 10, 2017: Ground Water
https://www.readbyqxmd.com/read/28491141/universal-molecular-screening-does-not-effectively-detect-lynch-syndrome-in-clinical-practice
#19
Beatrice Brennan, Christine T Hemmings, Ian Clark, Desmond Yip, Mitali Fadia, Douglas R Taupin
BACKGROUND: Lynch syndrome (LS) due to an inherited damaging mutation in mismatch repair (MMR) genes comprises 3% of all incident colorectal cancer (CRC). Molecular testing using immunohistochemistry (IHC) for MMR proteins is a recommended screening tool to identify LS in incident CRC. This study assessed outcomes of population-based routine molecular screening for diagnosis of LS in a regional center. METHODS: We conducted a prospective, consecutive case series study of universal IHC testing on cases of resected CRC from September 2004-December 2013...
April 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28489507/development-and-validation-of-the-premm5-model-for-comprehensive-risk-assessment-of-lynch-syndrome
#20
Fay Kastrinos, Hajime Uno, Chinedu Ukaegbu, Carmelita Alvero, Ashley McFarland, Matthew B Yurgelun, Matthew H Kulke, Deborah Schrag, Jeffrey A Meyerhardt, Charles S Fuchs, Robert J Mayer, Kimmie Ng, Ewout W Steyerberg, Sapna Syngal
Purpose Current Lynch syndrome (LS) prediction models quantify the risk to an individual of carrying a pathogenic germline mutation in three mismatch repair (MMR) genes: MLH1, MSH2, and MSH6. We developed a new prediction model, PREMM5, that incorporates the genes PMS2 and EPCAM to provide comprehensive LS risk assessment. Patients and Methods PREMM5 was developed to predict the likelihood of a mutation in any of the LS genes by using polytomous logistic regression analysis of clinical and germline data from 18,734 individuals who were tested for all five genes...
May 10, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
keyword
keyword
11424
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"